Difference between revisions of "OMIM References"

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==OMIM Pages by Developmental Topic==
 
==OMIM Pages by Developmental Topic==
 
=== Week 1 ===
 
=== Week 1 ===
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102530 GLOBOZOOSPERMIA] Acrosome Malformation of Spermatoza
+
* [http://omim.org/entry/102530 GLOBOZOOSPERMIA] Acrosome Malformation of Spermatoza
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888  Zona Pellucida Glycoprotein 2; ZP2]  
+
* [http://omim.org/entry/182888  Zona Pellucida Glycoprotein 2; ZP2]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182889 Zona Pellucida Glycoprotein 3A; ZP3A]  
+
* [http://omim.org/entry/182889 Zona Pellucida Glycoprotein 3A; ZP3A]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314670 X-inactivation-specific Transcript: Xist]  
+
* [http://omim.org/entry/314670 X-inactivation-specific Transcript: Xist]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601050 Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK]
+
* [http://omim.org/entry/601050 Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK]
  
 
====Fertilization====
 
====Fertilization====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1] FERTILIZATION ANTIGEN 1
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* [http://omim.org/entry/601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1] FERTILIZATION ANTIGEN 1
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK]
+
* [http://omim.org/entry/601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A]
+
* [http://omim.org/entry/182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=195000 ZONA PELLUCIDA GLYCOPROTEIN 1]
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* [http://omim.org/entry/195000 ZONA PELLUCIDA GLYCOPROTEIN 1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730 APOLIPOPROTEIN B; APOB]
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* [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1]
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* [http://omim.org/entry/118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102530 ACROSOME MALFORMATION OF SPERMATOZOA]
+
* [http://omim.org/entry/102530 ACROSOME MALFORMATION OF SPERMATOZOA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601533 FERTILIN, BETA; FTNB]
+
* [http://omim.org/entry/601533 FERTILIN, BETA; FTNB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191135 TUBULIN, GAMMA; TUBG]
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* [http://omim.org/entry/191135 TUBULIN, GAMMA; TUBG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME]
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* [http://omim.org/entry/244400 KARTAGENER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1]
+
* [http://omim.org/entry/308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176761 PROLACTIN RECEPTOR; PRLR]
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* [http://omim.org/entry/176761 PROLACTIN RECEPTOR; PRLR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2]
+
* [http://omim.org/entry/182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2]
  
 
====Spermatozoa Motility====
 
====Spermatozoa Motility====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME]
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* [http://omim.org/entry/244400 KARTAGENER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4]
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* [http://omim.org/entry/603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900 DYSTROPHIA MYOTONICA; DMPK]
+
* [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650 IMMOTILE CILIA SYNDROME 1; ICS1]
+
* [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730 APOLIPOPROTEIN B; APOB]
+
* [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH]
+
* [http://omim.org/entry/264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276900 USHER SYNDROME, TYPE IA; USH1A]
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* [http://omim.org/entry/276900 USHER SYNDROME, TYPE IA; USH1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP]
+
* [http://omim.org/entry/601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10]
+
* [http://omim.org/entry/601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC]
+
* [http://omim.org/entry/114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2]
+
* [http://omim.org/entry/147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A]
+
* [http://omim.org/entry/176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES]
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* [http://omim.org/entry/215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1]
+
* [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1]
  
 
====Spermatozoa====
 
====Spermatozoa====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1]
+
* [http://omim.org/entry/182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2]
+
* [http://omim.org/entry/602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600930 SPERM ADHESION MOLECULE 1; SPAM1]
+
* [http://omim.org/entry/600930 SPERM ADHESION MOLECULE 1; SPAM1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A]
+
* [http://omim.org/entry/182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182882 SPERM PROTAMINE P4; PRM4]
+
* [http://omim.org/entry/182882 SPERM PROTAMINE P4; PRM4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182880 SPERM PROTAMINE P1; PRM1]
+
* [http://omim.org/entry/182880 SPERM PROTAMINE P1; PRM1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125880 DIAPHORASE 3; DIA3]
+
* [http://omim.org/entry/125880 DIAPHORASE 3; DIA3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1]
+
* [http://omim.org/entry/603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2]
+
* [http://omim.org/entry/182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4]
+
* [http://omim.org/entry/603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP]
+
* [http://omim.org/entry/603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182879 SPERM MEMBRANE PROTEIN]
+
* [http://omim.org/entry/182879 SPERM MEMBRANE PROTEIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131375 ENOLASE, SPERM SPECIFIC; ENO4]
+
* [http://omim.org/entry/131375 ENOLASE, SPERM SPECIFIC; ENO4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1]
+
* [http://omim.org/entry/602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182890 SPERM PROTAMINE P2; PRM2]
+
* [http://omim.org/entry/182890 SPERM PROTAMINE P2; PRM2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM]
+
* [http://omim.org/entry/182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME]
+
* [http://omim.org/entry/244400 KARTAGENER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK]
+
* [http://omim.org/entry/601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900 DYSTROPHIA MYOTONICA; DMPK]
+
* [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143100 HUNTINGTON DISEASE; HD]
+
* [http://omim.org/entry/143100 HUNTINGTON DISEASE; HD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601533 FERTILIN, BETA; FTNB]
+
* [http://omim.org/entry/601533 FERTILIN, BETA; FTNB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150150 LACTATE DEHYDROGENASE-C; LDHC]
+
* [http://omim.org/entry/150150 LACTATE DEHYDROGENASE-C; LDHC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180 DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1]
+
* [http://omim.org/entry/106180 DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143890 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC]
+
* [http://omim.org/entry/143890 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1]
+
* [http://omim.org/entry/309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601193 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1]
+
* [http://omim.org/entry/601193 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700 ANDROGEN RECEPTOR; AR]
+
* [http://omim.org/entry/313700 ANDROGEN RECEPTOR; AR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601858 CALMEGIN; CLGN]
+
* [http://omim.org/entry/601858 CALMEGIN; CLGN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650 IMMOTILE CILIA SYNDROME 1; ICS1]
+
* [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168450 PARATHYROID HORMONE; PTH]
+
* [http://omim.org/entry/168450 PARATHYROID HORMONE; PTH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP]
+
* [http://omim.org/entry/601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102530 ACROSOME MALFORMATION OF SPERMATOZOA]
+
* [http://omim.org/entry/102530 ACROSOME MALFORMATION OF SPERMATOZOA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH]
+
* [http://omim.org/entry/264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730 APOLIPOPROTEIN B; APOB]
+
* [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=195000 ZONA PELLUCIDA GLYCOPROTEIN 1]
+
* [http://omim.org/entry/195000 ZONA PELLUCIDA GLYCOPROTEIN 1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164400 SPINOCEREBELLAR ATAXIA 1; SCA1]
+
* [http://omim.org/entry/164400 SPINOCEREBELLAR ATAXIA 1; SCA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10]
+
* [http://omim.org/entry/601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
+
* [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276900 USHER SYNDROME, TYPE IA; USH1A]
+
* [http://omim.org/entry/276900 USHER SYNDROME, TYPE IA; USH1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1]
+
* [http://omim.org/entry/118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602889 A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A]
+
* [http://omim.org/entry/602889 A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=279000 YOUNG SYNDROME]
+
* [http://omim.org/entry/279000 YOUNG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD]
+
* [http://omim.org/entry/277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603121 CYLICIN 1; CYCL1]
+
* [http://omim.org/entry/603121 CYLICIN 1; CYCL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114480 CANCER OF THE BREAST, FAMILIAL; BCS]
+
* [http://omim.org/entry/114480 CANCER OF THE BREAST, FAMILIAL; BCS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
+
* [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602692 GLIOMA PATHOGENESIS-RELATED PROTEIN]
+
* [http://omim.org/entry/602692 GLIOMA PATHOGENESIS-RELATED PROTEIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602974 AQUAPORIN 7; AQP7]
+
* [http://omim.org/entry/602974 AQUAPORIN 7; AQP7]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102480 ACROSIN; ACR]
+
* [http://omim.org/entry/102480 ACROSIN; ACR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
+
* [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY]
+
* [http://omim.org/entry/201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187430 TESTIS-SPECIFIC PROTEIN 1; TPX1]
+
* [http://omim.org/entry/187430 TESTIS-SPECIFIC PROTEIN 1; TPX1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191135 TUBULIN, GAMMA; TUBG]
+
* [http://omim.org/entry/191135 TUBULIN, GAMMA; TUBG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243060 INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA]
+
* [http://omim.org/entry/243060 INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300 FRIEDREICH ATAXIA 1; FRDA]
+
* [http://omim.org/entry/229300 FRIEDREICH ATAXIA 1; FRDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200 RETINOBLASTOMA; RB1]
+
* [http://omim.org/entry/180200 RETINOBLASTOMA; RB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185430 CLUSTERIN; CLU]
+
* [http://omim.org/entry/185430 CLUSTERIN; CLU]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A]
+
* [http://omim.org/entry/176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174800 MCCUNE-ALBRIGHT SYNDROME; MAS]
+
* [http://omim.org/entry/174800 MCCUNE-ALBRIGHT SYNDROME; MAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP]
+
* [http://omim.org/entry/173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193450 VULVOVAGINITIS, ALLERGIC SEMINAL]
+
* [http://omim.org/entry/193450 VULVOVAGINITIS, ALLERGIC SEMINAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172270 PHOSPHOGLYCERATE KINASE 2; PGK2]
+
* [http://omim.org/entry/172270 PHOSPHOGLYCERATE KINASE 2; PGK2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=195002 ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B]
+
* [http://omim.org/entry/195002 ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123812 CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM]
+
* [http://omim.org/entry/123812 CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH]
+
* [http://omim.org/entry/100800 ACHONDROPLASIA; ACH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610 RETINITIS PIGMENTOSA 3; RP3]
+
* [http://omim.org/entry/312610 RETINITIS PIGMENTOSA 3; RP3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574 TECTORIN, ALPHA; TECTA]
+
* [http://omim.org/entry/602574 TECTORIN, ALPHA; TECTA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228300 FERTILE EUNUCH]
+
* [http://omim.org/entry/228300 FERTILE EUNUCH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495 SERINE/THREONINE PROTEIN KINASE 13; STK13]
+
* [http://omim.org/entry/603495 SERINE/THREONINE PROTEIN KINASE 13; STK13]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231090 GESTATIONAL TROPHOBLASTIC DISEASE]
+
* [http://omim.org/entry/231090 GESTATIONAL TROPHOBLASTIC DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600 RETINITIS PIGMENTOSA 2; RP2]
+
* [http://omim.org/entry/312600 RETINITIS PIGMENTOSA 2; RP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES]
+
* [http://omim.org/entry/242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1]
+
* [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305700 GERMINAL CELL APLASIA]
+
* [http://omim.org/entry/305700 GERMINAL CELL APLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600499 ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG]
+
* [http://omim.org/entry/600499 ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602653 TECTORIN, BETA; TECTB]
+
* [http://omim.org/entry/602653 TECTORIN, BETA; TECTB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208900 ATAXIA-TELANGIECTASIA; AT]
+
* [http://omim.org/entry/208900 ATAXIA-TELANGIECTASIA; AT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193400 VON WILLEBRAND DISEASE]
+
* [http://omim.org/entry/193400 VON WILLEBRAND DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190232 TRANSITION PROTEIN 2; TNP2]
+
* [http://omim.org/entry/190232 TRANSITION PROTEIN 2; TNP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190231 TRANSITION PROTEIN 1; TNP1]
+
* [http://omim.org/entry/190231 TRANSITION PROTEIN 1; TNP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903 MYOSIN VIIA; MYO7A]
+
* [http://omim.org/entry/276903 MYOSIN VIIA; MYO7A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
+
* [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF]
+
* [http://omim.org/entry/300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300154 EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF]
+
* [http://omim.org/entry/300154 EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700 HEMOPHILIA A]
+
* [http://omim.org/entry/306700 HEMOPHILIA A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306900 HEMOPHILIA B; HEMB]
+
* [http://omim.org/entry/306900 HEMOPHILIA B; HEMB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176410 PRECOCIOUS PUBERTY, MALE-LIMITED]
+
* [http://omim.org/entry/176410 PRECOCIOUS PUBERTY, MALE-LIMITED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 PRADER-WILLI SYNDROME; PWS]
+
* [http://omim.org/entry/176270 PRADER-WILLI SYNDROME; PWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2]
+
* [http://omim.org/entry/176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES]
+
* [http://omim.org/entry/215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11]
+
* [http://omim.org/entry/155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000 SEX-DETERMINING REGION Y; SRY]
+
* [http://omim.org/entry/480000 SEX-DETERMINING REGION Y; SRY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION]
+
* [http://omim.org/entry/215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300144 GLUTAMATE DEHYDROGENASE 2]
+
* [http://omim.org/entry/300144 GLUTAMATE DEHYDROGENASE 2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185 BREAST CANCER 2, EARLY-ONSET; BRCA2]
+
* [http://omim.org/entry/600185 BREAST CANCER 2, EARLY-ONSET; BRCA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3]
+
* [http://omim.org/entry/600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600743 TRANSCRIPTION FACTOR AP4; TFAP4]
+
* [http://omim.org/entry/600743 TRANSCRIPTION FACTOR AP4; TFAP4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600750 PENTRAXIN II, NEURONAL; NPTX2]
+
* [http://omim.org/entry/600750 PENTRAXIN II, NEURONAL; NPTX2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR]
+
* [http://omim.org/entry/152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2]
+
* [http://omim.org/entry/147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A]
+
* [http://omim.org/entry/142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142709 H1 HISTONE FAMILY, MEMBER 1; H1F1]
+
* [http://omim.org/entry/142709 H1 HISTONE FAMILY, MEMBER 1; H1F1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142550 HEXOKINASE OF SPERMATOZOA]
+
* [http://omim.org/entry/142550 HEXOKINASE OF SPERMATOZOA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492 HYALURONIDASE DEFICIENCY]
+
* [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601517 ATAXIN 2; ATX2]
+
* [http://omim.org/entry/601517 ATAXIN 2; ATX2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2]
+
* [http://omim.org/entry/140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601663 ESTROGEN RECEPTOR 2; ESR2]
+
* [http://omim.org/entry/601663 ESTROGEN RECEPTOR 2; ESR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137010 F9 EMBRYONIC ANTIGEN; FEA]
+
* [http://omim.org/entry/137010 F9 EMBRYONIC ANTIGEN; FEA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR]
+
* [http://omim.org/entry/136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602073 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B]
+
* [http://omim.org/entry/602073 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602372 ZONADHESIN; ZAN]
+
* [http://omim.org/entry/602372 ZONADHESIN; ZAN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA]
+
* [http://omim.org/entry/227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600040 BCL2-ASSOCIATED X PROTEIN; BAX]
+
* [http://omim.org/entry/600040 BCL2-ASSOCIATED X PROTEIN; BAX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131530 EPIDERMAL GROWTH FACTOR; EGF]
+
* [http://omim.org/entry/131530 EPIDERMAL GROWTH FACTOR; EGF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41]
+
* [http://omim.org/entry/130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125870 DIAPHORASE 2; DIA2]
+
* [http://omim.org/entry/125870 DIAPHORASE 2; DIA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON]
+
* [http://omim.org/entry/123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117139 CENTROMERIC PROTEIN A; CENPA]
+
* [http://omim.org/entry/117139 CENTROMERIC PROTEIN A; CENPA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116896 CUT-LIKE, 1; CUTL1]
+
* [http://omim.org/entry/116896 CUT-LIKE, 1; CUTL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC]
+
* [http://omim.org/entry/114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280 ADULT SKELETAL MUSCLE GENE]
+
* [http://omim.org/entry/103280 ADULT SKELETAL MUSCLE GENE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700 CYSTIC FIBROSIS; CF]
+
* [http://omim.org/entry/219700 CYSTIC FIBROSIS; CF]
  
 
=== Cardiovascular ===
 
=== Cardiovascular ===
Line 198: Line 198:
 
====Tetralogy of Fallot====
 
====Tetralogy of Fallot====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187500 TETRALOGY OF FALLOT]
+
* [http://omim.org/entry/187500 TETRALOGY OF FALLOT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239711 HYPERTELORISM AND TETRALOGY OF FALLOT]
+
* [http://omim.org/entry/239711 HYPERTELORISM AND TETRALOGY OF FALLOT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187501 TETRALOGY OF FALLOT AND GLAUCOMA]
+
* [http://omim.org/entry/187501 TETRALOGY OF FALLOT AND GLAUCOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION]
+
* [http://omim.org/entry/601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400 DIGEORGE SYNDROME; DGS]
+
* [http://omim.org/entry/188400 DIGEORGE SYNDROME; DGS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME]
+
* [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179613 RECOMBINANT CHROMOSOME 8 SYNDROME]
+
* [http://omim.org/entry/179613 RECOMBINANT CHROMOSOME 8 SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM]
+
* [http://omim.org/entry/217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950 NOONAN SYNDROME 1; NS1]
+
* [http://omim.org/entry/163950 NOONAN SYNDROME 1; NS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
+
* [http://omim.org/entry/115470 CAT EYE SYNDROME; CES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA]
+
* [http://omim.org/entry/134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA]
+
* [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA]
+
* [http://omim.org/entry/601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME]
+
* [http://omim.org/entry/147920 KABUKI SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107600 APLASIA CUTIS CONGENITA]
+
* [http://omim.org/entry/107600 APLASIA CUTIS CONGENITA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250620 METHACRYLICACIDURIA]
+
* [http://omim.org/entry/250620 METHACRYLICACIDURIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211750 C SYNDROME]
+
* [http://omim.org/entry/211750 C SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1]
+
* [http://omim.org/entry/154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
+
* [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME]
+
* [http://omim.org/entry/274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
+
* [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF]
+
* [http://omim.org/entry/125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450 ALAGILLE SYNDROME; AGS]
+
* [http://omim.org/entry/118450 ALAGILLE SYNDROME; AGS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
+
* [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=280000 ZUNICH NEUROECTODERMAL SYNDROME]
+
* [http://omim.org/entry/280000 ZUNICH NEUROECTODERMAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309350 MELNICK-NEEDLES OSTEODYSPLASTY]
+
* [http://omim.org/entry/309350 MELNICK-NEEDLES OSTEODYSPLASTY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE]
+
* [http://omim.org/entry/600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD]
+
* [http://omim.org/entry/600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584 CARDIAC-SPECIFIC HOMEO BOX; CSX]
+
* [http://omim.org/entry/600584 CARDIAC-SPECIFIC HOMEO BOX; CSX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS]
+
* [http://omim.org/entry/227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162660 NEUROTROPHIN 3; NTF3]
+
* [http://omim.org/entry/162660 NEUROTROPHIN 3; NTF3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS]
+
* [http://omim.org/entry/600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA]
+
* [http://omim.org/entry/216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS]
+
* [http://omim.org/entry/601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920 JAGGED 1; JAG1]
+
* [http://omim.org/entry/601920 JAGGED 1; JAG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166780 OTOFACIOCERVICAL SYNDROME]
+
* [http://omim.org/entry/166780 OTOFACIOCERVICAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
+
* [http://omim.org/entry/602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603530 LIGHT FIXATION SEIZURE SYNDROME]
+
* [http://omim.org/entry/603530 LIGHT FIXATION SEIZURE SYNDROME]
  
 
====Atrial Septal Defect ====
 
====Atrial Septal Defect ====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD]
+
* [http://omim.org/entry/600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108800 ATRIAL SEPTAL DEFECT; ASD]
+
* [http://omim.org/entry/108800 ATRIAL SEPTAL DEFECT; ASD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS]
+
* [http://omim.org/entry/108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602482 AXENFELD-RIEGER ANOMALY WITH ATRIAL SEPTAL DEFECT AND SENSORINEURAL HEARING LOSS]
+
* [http://omim.org/entry/602482 AXENFELD-RIEGER ANOMALY WITH ATRIAL SEPTAL DEFECT AND SENSORINEURAL HEARING LOSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II]
+
* [http://omim.org/entry/113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES]
+
* [http://omim.org/entry/178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES]
+
* [http://omim.org/entry/601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
+
* [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS]
+
* [http://omim.org/entry/600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900 HOLT-ORAM SYNDROME; HOS]
+
* [http://omim.org/entry/142900 HOLT-ORAM SYNDROME; HOS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A]
+
* [http://omim.org/entry/115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA]
+
* [http://omim.org/entry/212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584 CARDIAC-SPECIFIC HOMEO BOX; CSX]
+
* [http://omim.org/entry/600584 CARDIAC-SPECIFIC HOMEO BOX; CSX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310 ROBINOW SYNDROME, RECESSIVE FORM]
+
* [http://omim.org/entry/268310 ROBINOW SYNDROME, RECESSIVE FORM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115080 CARDIAC CONDUCTION DEFECT]
+
* [http://omim.org/entry/115080 CARDIAC CONDUCTION DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL]
+
* [http://omim.org/entry/100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300166 OCULOFACIOCARDIODENTAL SYNDROME]
+
* [http://omim.org/entry/300166 OCULOFACIOCARDIODENTAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121000 CONGENITAL HEART DISEASE]
+
* [http://omim.org/entry/121000 CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
+
* [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME]
+
* [http://omim.org/entry/147920 KABUKI SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
+
* [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1]
+
* [http://omim.org/entry/192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE]
+
* [http://omim.org/entry/600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140400 HEART BLOCK]
+
* [http://omim.org/entry/140400 HEART BLOCK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME]
+
* [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255960 MYXOMA, INTRACARDIAC]
+
* [http://omim.org/entry/255960 MYXOMA, INTRACARDIAC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270100 SITUS INVERSUS VISCERUM]
+
* [http://omim.org/entry/270100 SITUS INVERSUS VISCERUM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1]
+
* [http://omim.org/entry/263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200610 ACHONDROGENESIS, TYPE II; ACG2]
+
* [http://omim.org/entry/200610 ACHONDROGENESIS, TYPE II; ACG2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
+
* [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192350 VATER ASSOCIATION]
+
* [http://omim.org/entry/192350 VATER ASSOCIATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA]
+
* [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE]
+
* [http://omim.org/entry/126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224700 EBSTEIN ANOMALY]
+
* [http://omim.org/entry/224700 EBSTEIN ANOMALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115150 CARDIOFACIOCUTANEOUS SYNDROME]
+
* [http://omim.org/entry/115150 CARDIOFACIOCUTANEOUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225500 ELLIS-VAN CREVELD SYNDROME; EVC]
+
* [http://omim.org/entry/225500 ELLIS-VAN CREVELD SYNDROME; EVC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS]
+
* [http://omim.org/entry/241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA]
+
* [http://omim.org/entry/153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B]
+
* [http://omim.org/entry/602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248950 MCDONOUGH SYNDROME]
+
* [http://omim.org/entry/248950 MCDONOUGH SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277200 VENTRICLE, HYPOPLASIA OF RIGHT]
+
* [http://omim.org/entry/277200 VENTRICLE, HYPOPLASIA OF RIGHT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION]
+
* [http://omim.org/entry/249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS]
+
* [http://omim.org/entry/601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277740 WHITE FORELOCK WITH MALFORMATIONS]
+
* [http://omim.org/entry/277740 WHITE FORELOCK WITH MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
+
* [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
+
* [http://omim.org/entry/263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300 ROBERTS SYNDROME; RBS]
+
* [http://omim.org/entry/268300 ROBERTS SYNDROME; RBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
+
* [http://omim.org/entry/311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS]
+
* [http://omim.org/entry/601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL] DYSMORPHISM
+
* [http://omim.org/entry/601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL] DYSMORPHISM
  
 
=== Musculoskeletal ===
 
=== Musculoskeletal ===
Line 293: Line 293:
 
====Muscular Dystrophy====
 
====Muscular Dystrophy====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
+
* [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A]
+
* [http://omim.org/entry/158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD]
+
* [http://omim.org/entry/253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A]
+
* [http://omim.org/entry/253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2]
+
* [http://omim.org/entry/181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C]
+
* [http://omim.org/entry/253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY]
+
* [http://omim.org/entry/310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119 SARCOGLYCAN, ALPHA; SGCA]
+
* [http://omim.org/entry/600119 SARCOGLYCAN, ALPHA; SGCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A]
+
* [http://omim.org/entry/159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD]
+
* [http://omim.org/entry/164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE]
+
* [http://omim.org/entry/600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B]
+
* [http://omim.org/entry/253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H]
+
* [http://omim.org/entry/254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B]
+
* [http://omim.org/entry/159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL]
+
* [http://omim.org/entry/310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257950 MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL RECESSIVE]
+
* [http://omim.org/entry/257950 MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B]
+
* [http://omim.org/entry/158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225 LAMININ, ALPHA-2; LAMA2]
+
* [http://omim.org/entry/156225 LAMININ, ALPHA-2; LAMA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900 DYSTROPHIA MYOTONICA; DMPK]
+
* [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E]
+
* [http://omim.org/entry/600900 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236670 WALKER-WARBURG SYNDROME]
+
* [http://omim.org/entry/236670 WALKER-WARBURG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254130 MIYOSHI MYOPATHY; MM]
+
* [http://omim.org/entry/254130 MIYOSHI MYOPATHY; MM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253 CAVEOLIN 3; CAV3]
+
* [http://omim.org/entry/601253 CAVEOLIN 3; CAV3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY]
+
* [http://omim.org/entry/226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES]
+
* [http://omim.org/entry/158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F]
+
* [http://omim.org/entry/601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D]
+
* [http://omim.org/entry/603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL]
+
* [http://omim.org/entry/600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION]
+
* [http://omim.org/entry/254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES]
+
* [http://omim.org/entry/159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254090 MUSCULAR DYSTROPHY, SCLEROATONIC]
+
* [http://omim.org/entry/254090 MUSCULAR DYSTROPHY, SCLEROATONIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS]
+
* [http://omim.org/entry/253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY]
+
* [http://omim.org/entry/602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY]
+
* [http://omim.org/entry/253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600506 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 4; LGMD4]
+
* [http://omim.org/entry/600506 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 4; LGMD4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA]
+
* [http://omim.org/entry/277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS]
+
* [http://omim.org/entry/601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601173 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE]
+
* [http://omim.org/entry/601173 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253850 MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE]
+
* [http://omim.org/entry/253850 MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY]
+
* [http://omim.org/entry/603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310000 MUSCULAR DYSTROPHY, MABRY TYPE]
+
* [http://omim.org/entry/310000 MUSCULAR DYSTROPHY, MABRY TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G]
+
* [http://omim.org/entry/601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM]
+
* [http://omim.org/entry/254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F]
+
* [http://omim.org/entry/602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE]
+
* [http://omim.org/entry/602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601846 MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV]
+
* [http://omim.org/entry/601846 MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309660 MENTAL RETARDATION, SCAPULOPERONEAL MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY]
+
* [http://omim.org/entry/309660 MENTAL RETARDATION, SCAPULOPERONEAL MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE]
+
* [http://omim.org/entry/309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158800 MUSCULAR DYSTROPHY, BARNES TYPE]
+
* [http://omim.org/entry/158800 MUSCULAR DYSTROPHY, BARNES TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309930 MUSCULAR DYSTROPHY, CARDIAC TYPE]
+
* [http://omim.org/entry/309930 MUSCULAR DYSTROPHY, CARDIAC TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601278 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 1; FRG1]
+
* [http://omim.org/entry/601278 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 1; FRG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204730 AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS]
+
* [http://omim.org/entry/204730 AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158600 MUSCULAR ATROPHY, JUVENILE SPINAL]
+
* [http://omim.org/entry/158600 MUSCULAR ATROPHY, JUVENILE SPINAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253400 SPINAL MUSCULAR ATROPHY III; SMA3]
+
* [http://omim.org/entry/253400 SPINAL MUSCULAR ATROPHY III; SMA3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009 DYSFERLIN; DYSF]
+
* [http://omim.org/entry/603009 DYSFERLIN; DYSF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240 CALPAIN, LARGE POLYPEPTIDE L3; CAPN3]
+
* [http://omim.org/entry/114240 CALPAIN, LARGE POLYPEPTIDE L3; CAPN3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1]
+
* [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411 SARCOGLYCAN, DELTA; SGCD]
+
* [http://omim.org/entry/601411 SARCOGLYCAN, DELTA; SGCD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; FSHSMA]
+
* [http://omim.org/entry/182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; FSHSMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282 PLECTIN 1; PLEC1]
+
* [http://omim.org/entry/601282 PLECTIN 1; PLEC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330 LAMIN A/C; LMNA]
+
* [http://omim.org/entry/150330 LAMIN A/C; LMNA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128240 UTROPHIN; UTRN]
+
* [http://omim.org/entry/128240 UTROPHIN; UTRN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307030 HYPERGLYCEROLEMIA]
+
* [http://omim.org/entry/307030 HYPERGLYCEROLEMIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE]
+
* [http://omim.org/entry/181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1]
+
* [http://omim.org/entry/128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC]
+
* [http://omim.org/entry/300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME]
+
* [http://omim.org/entry/193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE]
+
* [http://omim.org/entry/271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300600 ALBINISM, OCULAR, TYPE II; OA2]
+
* [http://omim.org/entry/300600 ALBINISM, OCULAR, TYPE II; OA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602668 DYSTROPHIA MYOTONICA 2; DM2]
+
* [http://omim.org/entry/602668 DYSTROPHIA MYOTONICA 2; DM2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234200 HALLERVORDEN-SPATZ DISEASE]
+
* [http://omim.org/entry/234200 HALLERVORDEN-SPATZ DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158580 MYOPATHY, DISTAL, WITH VOCAL CORD AND PHARYNGEAL WEAKNESS]
+
* [http://omim.org/entry/158580 MYOPATHY, DISTAL, WITH VOCAL CORD AND PHARYNGEAL WEAKNESS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602279 POLYADENYLATE-BINDING PROTEIN 2; PABP2]
+
* [http://omim.org/entry/602279 POLYADENYLATE-BINDING PROTEIN 2; PABP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM]
+
* [http://omim.org/entry/123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181400 AMYOTROPHY, SCAPULOPERONEAL]
+
* [http://omim.org/entry/181400 AMYOTROPHY, SCAPULOPERONEAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232300 GLYCOGEN STORAGE DISEASE II]
+
* [http://omim.org/entry/232300 GLYCOGEN STORAGE DISEASE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160800 MYOTONIA CONGENITA, DOMINANT]
+
* [http://omim.org/entry/160800 MYOTONIA CONGENITA, DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280 MUSCLE-EYE-BRAIN DISEASE]
+
* [http://omim.org/entry/253280 MUSCLE-EYE-BRAIN DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700 ANDROGEN RECEPTOR; AR]
+
* [http://omim.org/entry/313700 ANDROGEN RECEPTOR; AR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239 DYSTROBREVIN, ALPHA; DTNA]
+
* [http://omim.org/entry/601239 DYSTROBREVIN, ALPHA; DTNA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306400 GRANULOMATOUS DISEASE, CHRONIC; CGD]
+
* [http://omim.org/entry/306400 GRANULOMATOUS DISEASE, CHRONIC; CGD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220 ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1]
+
* [http://omim.org/entry/103220 ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG]
+
* [http://omim.org/entry/120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB]
+
* [http://omim.org/entry/120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600 RETINITIS PIGMENTOSA 2; RP2]
+
* [http://omim.org/entry/312600 RETINITIS PIGMENTOSA 2; RP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA]
+
* [http://omim.org/entry/120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300 ENGELMANN DISEASE]
+
* [http://omim.org/entry/131300 ENGELMANN DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600536 INTEGRIN, ALPHA-7; ITGA7]
+
* [http://omim.org/entry/600536 INTEGRIN, ALPHA-7; ITGA7]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160500 MYOPATHY, DISTAL 1; MPD1]
+
* [http://omim.org/entry/160500 MYOPATHY, DISTAL 1; MPD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4]
+
* [http://omim.org/entry/300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200 NEUROFIBROMATOSIS, TYPE I; NF1]
+
* [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163731 NITRIC OXIDE SYNTHASE 1; NOS1]
+
* [http://omim.org/entry/163731 NITRIC OXIDE SYNTHASE 1; NOS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 FILAMIN A, ALPHA; FLNA]
+
* [http://omim.org/entry/300017 FILAMIN A, ALPHA; FLNA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181430 SCAPULOPERONEAL MYOPATHY; SPM]
+
* [http://omim.org/entry/181430 SCAPULOPERONEAL MYOPATHY; SPM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601047 CAVEOLIN 1; CAV1]
+
* [http://omim.org/entry/601047 CAVEOLIN 1; CAV1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114750 CARBONIC ANHYDRASE III; CA3]
+
* [http://omim.org/entry/114750 CARBONIC ANHYDRASE III; CA3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610 RETINITIS PIGMENTOSA 3; RP3]
+
* [http://omim.org/entry/312610 RETINITIS PIGMENTOSA 3; RP3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION]
+
* [http://omim.org/entry/226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136535 FORMIN; FMN]
+
* [http://omim.org/entry/136535 FORMIN; FMN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309900 MUCOPOLYSACCHARIDOSIS TYPE II]
+
* [http://omim.org/entry/309900 MUCOPOLYSACCHARIDOSIS TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300023 RHO-GAP HEMATOPOIETIC PROTEIN C1]
+
* [http://omim.org/entry/300023 RHO-GAP HEMATOPOIETIC PROTEIN C1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5]
+
* [http://omim.org/entry/300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797 FIBRILLIN 1; FBN1]
+
* [http://omim.org/entry/134797 FIBRILLIN 1; FBN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600109 PROXIMAL MYOTONIC MYOPATHY; PROMM]
+
* [http://omim.org/entry/600109 PROXIMAL MYOTONIC MYOPATHY; PROMM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314850 KELL BLOOD GROUP PRECURSOR; XK]
+
* [http://omim.org/entry/314850 KELL BLOOD GROUP PRECURSOR; XK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602415 DYSTROBREVIN, BETA; DTNB]
+
* [http://omim.org/entry/602415 DYSTROBREVIN, BETA; DTNB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800 MARINESCO-SJOGREN SYNDROME; MSS]
+
* [http://omim.org/entry/248800 MARINESCO-SJOGREN SYNDROME; MSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2]
+
* [http://omim.org/entry/151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1]
+
* [http://omim.org/entry/310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1]
+
* [http://omim.org/entry/305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1]
+
* [http://omim.org/entry/300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660 DESMIN; DES]
+
* [http://omim.org/entry/125660 DESMIN; DES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN]
+
* [http://omim.org/entry/208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214150 CEREBROOCULOFACIOSKELETAL SYNDROME]
+
* [http://omim.org/entry/214150 CEREBROOCULOFACIOSKELETAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302045 CARDIOMYOPATHY, DILATED, X-LINKED; XLCM]
+
* [http://omim.org/entry/302045 CARDIOMYOPATHY, DILATED, X-LINKED; XLCM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160000 MYOGLOBIN; MB]
+
* [http://omim.org/entry/160000 MYOGLOBIN; MB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232500 GLYCOGEN STORAGE DISEASE IV]
+
* [http://omim.org/entry/232500 GLYCOGEN STORAGE DISEASE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1]
+
* [http://omim.org/entry/179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1]
+
* [http://omim.org/entry/190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700 HEMOPHILIA A]
+
* [http://omim.org/entry/306700 HEMOPHILIA A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS]
+
* [http://omim.org/entry/160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257300 NONDISJUNCTION]
+
* [http://omim.org/entry/257300 NONDISJUNCTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840 TITIN; TTN]
+
* [http://omim.org/entry/188840 TITIN; TTN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276901 USHER SYNDROME, TYPE IIA; USH2A]
+
* [http://omim.org/entry/276901 USHER SYNDROME, TYPE IIA; USH2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255800 SCHWARTZ-JAMPEL SYNDROME; SJS]
+
* [http://omim.org/entry/255800 SCHWARTZ-JAMPEL SYNDROME; SJS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301500 ANGIOKERATOMA, DIFFUSE]
+
* [http://omim.org/entry/301500 ANGIOKERATOMA, DIFFUSE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314700 XG BLOOD GROUP SYSTEM; XG; PBDX]
+
* [http://omim.org/entry/314700 XG BLOOD GROUP SYSTEM; XG; PBDX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601484 SELENOPROTEIN P, PLASMA, 1; SEPP1]
+
* [http://omim.org/entry/601484 SELENOPROTEIN P, PLASMA, 1; SEPP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1]
+
* [http://omim.org/entry/120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3]
+
* [http://omim.org/entry/600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; XMEA; MEAX]
+
* [http://omim.org/entry/310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; XMEA; MEAX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC]
+
* [http://omim.org/entry/311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600538 PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1]
+
* [http://omim.org/entry/600538 PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600118 WARBURG MICRO SYNDROME]
+
* [http://omim.org/entry/600118 WARBURG MICRO SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601048 CAVEOLIN 2; CAV2]
+
* [http://omim.org/entry/601048 CAVEOLIN 2; CAV2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106210 PAIRED BOX HOMEOTIC GENE 6; PAX6]
+
* [http://omim.org/entry/106210 PAIRED BOX HOMEOTIC GENE 6; PAX6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117000 CENTRAL CORE DISEASE OF MUSCLE]
+
* [http://omim.org/entry/117000 CENTRAL CORE DISEASE OF MUSCLE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE]
+
* [http://omim.org/entry/123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306190 GONADOTROPIN DEFICIENCY; GTD]
+
* [http://omim.org/entry/306190 GONADOTROPIN DEFICIENCY; GTD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305400 FACIOGENITAL DYSPLASIA; FGD1]
+
* [http://omim.org/entry/305400 FACIOGENITAL DYSPLASIA; FGD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2]
+
* [http://omim.org/entry/302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300500 ALBINISM, OCULAR, TYPE 1; OA1]
+
* [http://omim.org/entry/300500 ALBINISM, OCULAR, TYPE 1; OA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED]
+
* [http://omim.org/entry/300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037 GLYPICAN 3; GPC3]
+
* [http://omim.org/entry/300037 GLYPICAN 3; GPC3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300100 ADRENOLEUKODYSTROPHY; ALD]
+
* [http://omim.org/entry/300100 ADRENOLEUKODYSTROPHY; ALD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036 SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8]
+
* [http://omim.org/entry/300036 SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1]
+
* [http://omim.org/entry/312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1]
+
* [http://omim.org/entry/300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2]
+
* [http://omim.org/entry/120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308100 ICHTHYOSIS, X-LINKED]
+
* [http://omim.org/entry/308100 ICHTHYOSIS, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840 L1 CELL ADHESION MOLECULE; L1CAM]
+
* [http://omim.org/entry/308840 L1 CELL ADHESION MOLECULE; L1CAM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR]
+
* [http://omim.org/entry/314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277720 WHISTLING FACE SYNDROME, RECESSIVE FORM]
+
* [http://omim.org/entry/277720 WHISTLING FACE SYNDROME, RECESSIVE FORM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1]
+
* [http://omim.org/entry/309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION]
+
* [http://omim.org/entry/275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL]
+
* [http://omim.org/entry/309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600308 AQUAPORIN 4; AQP4]
+
* [http://omim.org/entry/600308 AQUAPORIN 4; AQP4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143 DYNACTIN 1; DCTN1]
+
* [http://omim.org/entry/601143 DYNACTIN 1; DCTN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601160 LISSENCEPHALY SYNDROME TYPE III]
+
* [http://omim.org/entry/601160 LISSENCEPHALY SYNDROME TYPE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT]
+
* [http://omim.org/entry/601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114250 CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE 1; CASQ1; CASQ]
+
* [http://omim.org/entry/114250 CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE 1; CASQ1; CASQ]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2]
+
* [http://omim.org/entry/256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255600 MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL]
+
* [http://omim.org/entry/255600 MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109150 MACHADO-JOSEPH DISEASE; MJD]
+
* [http://omim.org/entry/109150 MACHADO-JOSEPH DISEASE; MJD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140300 HASHIMOTO STRUMA]
+
* [http://omim.org/entry/140300 HASHIMOTO STRUMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1]
+
* [http://omim.org/entry/151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP]
+
* [http://omim.org/entry/600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK]
+
* [http://omim.org/entry/601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232400 GLYCOGEN STORAGE DISEASE III]
+
* [http://omim.org/entry/232400 GLYCOGEN STORAGE DISEASE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA]
+
* [http://omim.org/entry/125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601556 ATAXIN 1; ATX1]
+
* [http://omim.org/entry/601556 ATAXIN 1; ATX1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224050 DYSEQUILIBRIUM SYNDROME; DES]
+
* [http://omim.org/entry/224050 DYSEQUILIBRIUM SYNDROME; DES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1]
+
* [http://omim.org/entry/220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212905 CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT]
+
* [http://omim.org/entry/212905 CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2]
+
* [http://omim.org/entry/602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
+
* [http://omim.org/entry/202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200 RETINOBLASTOMA; RB1]
+
* [http://omim.org/entry/180200 RETINOBLASTOMA; RB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR]
+
* [http://omim.org/entry/602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1]
+
* [http://omim.org/entry/178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169400 PELGER-HUET ANOMALY]
+
* [http://omim.org/entry/169400 PELGER-HUET ANOMALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164400 SPINOCEREBELLAR ATAXIA 1; SCA1]
+
* [http://omim.org/entry/164400 SPINOCEREBELLAR ATAXIA 1; SCA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1]
+
* [http://omim.org/entry/161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603073 ZIC FAMILY MEMBER 2; ZIC2]
+
* [http://omim.org/entry/603073 ZIC FAMILY MEMBER 2; ZIC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH]
+
* [http://omim.org/entry/100800 ACHONDROPLASIA; ACH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258450 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL]
+
* [http://omim.org/entry/258450 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL]
  
 
====Syndactyly====
 
====Syndactyly====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186100 SYNDACTYLY, TYPE III]
+
* [http://omim.org/entry/186100 SYNDACTYLY, TYPE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186200 SYNDACTYLY, TYPE IV]
+
* [http://omim.org/entry/186200 SYNDACTYLY, TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186300 SYNDACTYLY, TYPE V]
+
* [http://omim.org/entry/186300 SYNDACTYLY, TYPE V]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS]
+
* [http://omim.org/entry/219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185900 SYNDACTYLY, TYPE I]
+
* [http://omim.org/entry/185900 SYNDACTYLY, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186000 SYNDACTYLY, TYPE II]
+
* [http://omim.org/entry/186000 SYNDACTYLY, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
+
* [http://omim.org/entry/225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION]
+
* [http://omim.org/entry/272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212780 CENANI SYNDACTYLISM]
+
* [http://omim.org/entry/212780 CENANI SYNDACTYLISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269500 SCLEROSTEOSIS]
+
* [http://omim.org/entry/269500 SCLEROSTEOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101400 SAETHRE-CHOTZEN SYNDROME; SCS]
+
* [http://omim.org/entry/101400 SAETHRE-CHOTZEN SYNDROME; SCS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601446 SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS]
+
* [http://omim.org/entry/601446 SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY]
+
* [http://omim.org/entry/600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206920 ANOPHTHALMOS WITH LIMB ANOMALIES]
+
* [http://omim.org/entry/206920 ANOPHTHALMOS WITH LIMB ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173800 POLAND SYNDROME]
+
* [http://omim.org/entry/173800 POLAND SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME]
+
* [http://omim.org/entry/186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601005 LONG QT SYNDROME WITH SYNDACTYLY]
+
* [http://omim.org/entry/601005 LONG QT SYNDROME WITH SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV]
+
* [http://omim.org/entry/600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE]
+
* [http://omim.org/entry/210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY]
+
* [http://omim.org/entry/227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES]
+
* [http://omim.org/entry/184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME]
+
* [http://omim.org/entry/190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164200 OCULODENTODIGITAL DYSPLASIA; ODDD]
+
* [http://omim.org/entry/164200 OCULODENTODIGITAL DYSPLASIA; ODDD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200 APERT SYNDROME]
+
* [http://omim.org/entry/101200 APERT SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174700 POLYDACTYLY, PREAXIAL IV]
+
* [http://omim.org/entry/174700 POLYDACTYLY, PREAXIAL IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2]
+
* [http://omim.org/entry/176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY]
+
* [http://omim.org/entry/188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
+
* [http://omim.org/entry/119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
+
* [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION]
+
* [http://omim.org/entry/312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600 FOCAL DERMAL HYPOPLASIA; DHOF]
+
* [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE]
+
* [http://omim.org/entry/601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS]
+
* [http://omim.org/entry/175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510 PALLISTER-HALL SYNDROME; PHS]
+
* [http://omim.org/entry/146510 PALLISTER-HALL SYNDROME; PHS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE]
+
* [http://omim.org/entry/263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
+
* [http://omim.org/entry/225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107480 TOWNES-BROCKS SYNDROME; TBS]
+
* [http://omim.org/entry/107480 TOWNES-BROCKS SYNDROME; TBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3]
+
* [http://omim.org/entry/134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD]
+
* [http://omim.org/entry/149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263450 POLYDACTYLY, POSTAXIAL]
+
* [http://omim.org/entry/263450 POLYDACTYLY, POSTAXIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311200 OROFACIODIGITAL SYNDROME 1; OFD1]
+
* [http://omim.org/entry/311200 OROFACIODIGITAL SYNDROME 1; OFD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB]
+
* [http://omim.org/entry/162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164280 OCULODIGITOESOPHAGODUODENAL SYNDROME]
+
* [http://omim.org/entry/164280 OCULODIGITOESOPHAGODUODENAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE]
+
* [http://omim.org/entry/257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181270 SCALP-EAR-NIPPLE SYNDROME]
+
* [http://omim.org/entry/181270 SCALP-EAR-NIPPLE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225280 EEM SYNDROME]
+
* [http://omim.org/entry/225280 EEM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME]
+
* [http://omim.org/entry/235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS]
+
* [http://omim.org/entry/135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119580 BLEPHAROCHEILODONTIC SYNDROME]
+
* [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II]
+
* [http://omim.org/entry/201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304120 CRANIOORODIGITAL SYNDROME]
+
* [http://omim.org/entry/304120 CRANIOORODIGITAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A]
+
* [http://omim.org/entry/182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113000 BRACHYDACTYLY, TYPE B1; BDB1]
+
* [http://omim.org/entry/113000 BRACHYDACTYLY, TYPE B1; BDB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM]
+
* [http://omim.org/entry/151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820 KLEIN-WAARDENBURG SYNDROME]
+
* [http://omim.org/entry/148820 KLEIN-WAARDENBURG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143095 HUMEROSPINAL DYSOSTOSIS]
+
* [http://omim.org/entry/143095 HUMEROSPINAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900 HOLT-ORAM SYNDROME; HOS]
+
* [http://omim.org/entry/142900 HOLT-ORAM SYNDROME; HOS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176920 PROTEUS SYNDROME]
+
* [http://omim.org/entry/176920 PROTEUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP]
+
* [http://omim.org/entry/162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
+
* [http://omim.org/entry/164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL]
+
* [http://omim.org/entry/124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET]
+
* [http://omim.org/entry/185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181510 SCHIZOPHRENIA 1; SCZD1]
+
* [http://omim.org/entry/181510 SCHIZOPHRENIA 1; SCZD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
+
* [http://omim.org/entry/122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY]
+
* [http://omim.org/entry/120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
+
* [http://omim.org/entry/129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114150 CAMPTOBRACHYDACTYLY]
+
* [http://omim.org/entry/114150 CAMPTOBRACHYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS]
+
* [http://omim.org/entry/183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT]
+
* [http://omim.org/entry/188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY]
+
* [http://omim.org/entry/188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109050 AUROCEPHALOSYNDACTYLY]
+
* [http://omim.org/entry/109050 AUROCEPHALOSYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM]
+
* [http://omim.org/entry/104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF]
+
* [http://omim.org/entry/102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102490 ACRORENOOCULAR SYNDROME]
+
* [http://omim.org/entry/102490 ACRORENOOCULAR SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS]
+
* [http://omim.org/entry/183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101600 PFEIFFER SYNDROME]
+
* [http://omim.org/entry/101600 PFEIFFER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
+
* [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603596 POLYDACTYLY]
+
* [http://omim.org/entry/603596 POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME]
+
* [http://omim.org/entry/203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269630 SECOND METATARSAL-METACARPAL SYNDROME]
+
* [http://omim.org/entry/269630 SECOND METATARSAL-METACARPAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
+
* [http://omim.org/entry/209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858 DELTA-7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7]
+
* [http://omim.org/entry/602858 DELTA-7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME]
+
* [http://omim.org/entry/269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
+
* [http://omim.org/entry/602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
+
* [http://omim.org/entry/263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY]
+
* [http://omim.org/entry/217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
+
* [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL]
+
* [http://omim.org/entry/601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS]
+
* [http://omim.org/entry/600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES]
+
* [http://omim.org/entry/263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
+
* [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256520 NEU-LAXOVA SYNDROME; NLS]
+
* [http://omim.org/entry/256520 NEU-LAXOVA SYNDROME; NLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251255 MICROCEPHALY WITH DIGITAL ANOMALIES]
+
* [http://omim.org/entry/251255 MICROCEPHALY WITH DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION]
+
* [http://omim.org/entry/271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA]
+
* [http://omim.org/entry/602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY]
+
* [http://omim.org/entry/601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
+
* [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601224 DEFECT 11 CONTIGUOUS GENE SYNDROME]
+
* [http://omim.org/entry/601224 DEFECT 11 CONTIGUOUS GENE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET]
+
* [http://omim.org/entry/314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249000 MECKEL SYNDROME; MKS]
+
* [http://omim.org/entry/249000 MECKEL SYNDROME; MKS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313350 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED]
+
* [http://omim.org/entry/313350 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA]
+
* [http://omim.org/entry/236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239710 HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME]
+
* [http://omim.org/entry/239710 HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304110 CRANIOFRONTONASAL SYNDROME; CFNS]
+
* [http://omim.org/entry/304110 CRANIOFRONTONASAL SYNDROME; CFNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY]
+
* [http://omim.org/entry/241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243340 ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY]
+
* [http://omim.org/entry/243340 ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
+
* [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE]
+
* [http://omim.org/entry/601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272350 SUMMITT SYNDROME]
+
* [http://omim.org/entry/272350 SUMMITT SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300049 HETEROTOPIA, FAMILIAL NODULAR]
+
* [http://omim.org/entry/300049 HETEROTOPIA, FAMILIAL NODULAR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168500 PARIETAL FORAMINA, SYMMETRIC; PFM]
+
* [http://omim.org/entry/168500 PARIETAL FORAMINA, SYMMETRIC; PFM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME]
+
* [http://omim.org/entry/239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258860 ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV]
+
* [http://omim.org/entry/258860 ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261800 PIERRE ROBIN SYNDROME]
+
* [http://omim.org/entry/261800 PIERRE ROBIN SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160980 CARNEY COMPLEX; CNC]
+
* [http://omim.org/entry/160980 CARNEY COMPLEX; CNC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
+
* [http://omim.org/entry/235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252100 MOHR SYNDROME]
+
* [http://omim.org/entry/252100 MOHR SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217100 CONSTRICTING BANDS, CONGENITAL]
+
* [http://omim.org/entry/217100 CONSTRICTING BANDS, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
+
* [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900 POLYCYSTIC KIDNEYS]
+
* [http://omim.org/entry/173900 POLYCYSTIC KIDNEYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226700 EPIDERMOLYSIS BULLOSA LETALIS]
+
* [http://omim.org/entry/226700 EPIDERMOLYSIS BULLOSA LETALIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1]
+
* [http://omim.org/entry/226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174200 POLYDACTYLY, POSTAXIAL, TYPE A1]
+
* [http://omim.org/entry/174200 POLYDACTYLY, POSTAXIAL, TYPE A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201181 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE]
+
* [http://omim.org/entry/201181 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA]
+
* [http://omim.org/entry/226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174400 POLYDACTYLY, PREAXIAL I]
+
* [http://omim.org/entry/174400 POLYDACTYLY, PREAXIAL I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175690 POLYSYNDACTYLY, CROSSED]
+
* [http://omim.org/entry/175690 POLYSYNDACTYLY, CROSSED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136000 FINGERPRINTS, ABSENCE OF]
+
* [http://omim.org/entry/136000 FINGERPRINTS, ABSENCE OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
+
* [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300166 OCULOFACIOCARDIODENTAL SYNDROME]
+
* [http://omim.org/entry/300166 OCULOFACIOCARDIODENTAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
+
* [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180860 RUSSELL-SILVER SYNDROME; RSS]
+
* [http://omim.org/entry/180860 RUSSELL-SILVER SYNDROME; RSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM]
+
* [http://omim.org/entry/124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305400 FACIOGENITAL DYSPLASIA; FGD1]
+
* [http://omim.org/entry/305400 FACIOGENITAL DYSPLASIA; FGD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305450 FG SYNDROME; FGS1]
+
* [http://omim.org/entry/305450 FG SYNDROME; FGS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150 JACKSON-WEISS SYNDROME; JWS]
+
* [http://omim.org/entry/123150 JACKSON-WEISS SYNDROME; JWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309800 MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA]
+
* [http://omim.org/entry/309800 MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
+
* [http://omim.org/entry/309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122920 CRANIOFRONTAL DYSPLASIA]
+
* [http://omim.org/entry/122920 CRANIOFRONTAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A]
+
* [http://omim.org/entry/118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200500 ACHEIROPODY]
+
* [http://omim.org/entry/200500 ACHEIROPODY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
+
* [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218090 CRANE-HEISE SYNDROME]
+
* [http://omim.org/entry/218090 CRANE-HEISE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600151 BARDET-BIEDL SYNDROME, TYPE 3; BBS3]
+
* [http://omim.org/entry/600151 BARDET-BIEDL SYNDROME, TYPE 3; BBS3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374 BARDET-BIEDL SYNDROME, TYPE 4; BBS4]
+
* [http://omim.org/entry/600374 BARDET-BIEDL SYNDROME, TYPE 4; BBS4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
+
* [http://omim.org/entry/115470 CAT EYE SYNDROME; CES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE]
+
* [http://omim.org/entry/600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107600 APLASIA CUTIS CONGENITA]
+
* [http://omim.org/entry/107600 APLASIA CUTIS CONGENITA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218330 CRANIOECTODERMAL DYSPLASIA]
+
* [http://omim.org/entry/218330 CRANIOECTODERMAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1]
+
* [http://omim.org/entry/150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102650 ADACTYLIA, UNILATERAL]
+
* [http://omim.org/entry/102650 ADACTYLIA, UNILATERAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES]
+
* [http://omim.org/entry/264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III]
+
* [http://omim.org/entry/101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000 PTERYGIUM SYNDROME]
+
* [http://omim.org/entry/265000 PTERYGIUM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH]
+
* [http://omim.org/entry/601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1]
+
* [http://omim.org/entry/211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
+
* [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT]
+
* [http://omim.org/entry/601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L]
+
* [http://omim.org/entry/601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989 HOMEO BOX D13; HOXD13]
+
* [http://omim.org/entry/142989 HOMEO BOX D13; HOXD13]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602071 BROAD TERMINAL PHALANGES, FAMILIAL]
+
* [http://omim.org/entry/602071 BROAD TERMINAL PHALANGES, FAMILIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200990 ACROCALLOSAL SYNDROME; ACLS]
+
* [http://omim.org/entry/200990 ACROCALLOSAL SYNDROME; ACLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136535 FORMIN; FMN]
+
* [http://omim.org/entry/136535 FORMIN; FMN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY]
+
* [http://omim.org/entry/602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602570 JAGGED 2; JAG2]
+
* [http://omim.org/entry/602570 JAGGED 2; JAG2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE]
+
* [http://omim.org/entry/602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602849 MUENKE SYNDROME]
+
* [http://omim.org/entry/602849 MUENKE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV]
+
* [http://omim.org/entry/201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100050 AARSKOG SYNDROME]
+
* [http://omim.org/entry/100050 AARSKOG SYNDROME]
  
  
 
====Scoliosis====
 
====Scoliosis====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181800 SCOLIOSIS, IDIOPATHIC]
+
* [http://omim.org/entry/181800 SCOLIOSIS, IDIOPATHIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=555000 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS]
+
* [http://omim.org/entry/555000 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603438 RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION]
+
* [http://omim.org/entry/603438 RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182210 SHPRINTZEN OMPHALOCELE SYNDROME]
+
* [http://omim.org/entry/182210 SHPRINTZEN OMPHALOCELE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION]
+
* [http://omim.org/entry/603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272460 SYNSPONDYLISM, CONGENITAL]
+
* [http://omim.org/entry/272460 SYNSPONDYLISM, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797 FIBRILLIN 1; FBN1]
+
* [http://omim.org/entry/134797 FIBRILLIN 1; FBN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA]
+
* [http://omim.org/entry/121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300 FRIEDREICH ATAXIA 1; FRDA]
+
* [http://omim.org/entry/229300 FRIEDREICH ATAXIA 1; FRDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305620 FRONTOMETAPHYSEAL DYSPLASIA]
+
* [http://omim.org/entry/305620 FRONTOMETAPHYSEAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE]
+
* [http://omim.org/entry/250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176250 POSTERIOR COLUMN ATAXIA]
+
* [http://omim.org/entry/176250 POSTERIOR COLUMN ATAXIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235000 HEMIHYPERTROPHY]
+
* [http://omim.org/entry/235000 HEMIHYPERTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB]
+
* [http://omim.org/entry/600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200 NEUROFIBROMATOSIS, TYPE I; NF1]
+
* [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400 BASAL CELL NEVUS SYNDROME; BCNS]
+
* [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME]
+
* [http://omim.org/entry/113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL]
+
* [http://omim.org/entry/271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222600 DIASTROPHIC DYSPLASIA; DTD]
+
* [http://omim.org/entry/222600 DIASTROPHIC DYSPLASIA; DTD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154700 MARFAN SYNDROME; MFS]
+
* [http://omim.org/entry/154700 MARFAN SYNDROME; MFS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
+
* [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1]
+
* [http://omim.org/entry/309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE]
+
* [http://omim.org/entry/184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION]
+
* [http://omim.org/entry/255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II]
+
* [http://omim.org/entry/108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225400 EHLERS-DANLOS SYNDROME, TYPE VI]
+
* [http://omim.org/entry/225400 EHLERS-DANLOS SYNDROME, TYPE VI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166200 OSTEOGENESIS IMPERFECTA, TYPE I]
+
* [http://omim.org/entry/166200 OSTEOGENESIS IMPERFECTA, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108450 ASYMMETRIC SHORT STATURE SYNDROME]
+
* [http://omim.org/entry/108450 ASYMMETRIC SHORT STATURE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119600 CLEIDOCRANIAL DYSPLASIA; CCD]
+
* [http://omim.org/entry/119600 CLEIDOCRANIAL DYSPLASIA; CCD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
+
* [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME]
+
* [http://omim.org/entry/147920 KABUKI SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113500 BRACHYRACHIA]
+
* [http://omim.org/entry/113500 BRACHYRACHIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158350 COWDEN DISEASE; CD]
+
* [http://omim.org/entry/158350 COWDEN DISEASE; CD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC]
+
* [http://omim.org/entry/108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM]
+
* [http://omim.org/entry/104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
+
* [http://omim.org/entry/162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP]
+
* [http://omim.org/entry/162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157170 HOLOPROSENCEPHALY 2; HPE2]
+
* [http://omim.org/entry/157170 HOLOPROSENCEPHALY 2; HPE2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 FRYNS SYNDROME; FRNS]
+
* [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
+
* [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I]
+
* [http://omim.org/entry/230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2]
+
* [http://omim.org/entry/256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255995 NATIVE AMERICAN MYOPATHY]
+
* [http://omim.org/entry/255995 NATIVE AMERICAN MYOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY]
+
* [http://omim.org/entry/602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE]
+
* [http://omim.org/entry/602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI]
+
* [http://omim.org/entry/176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS]
+
* [http://omim.org/entry/601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION]
+
* [http://omim.org/entry/601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE]
+
* [http://omim.org/entry/178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601472 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D]
+
* [http://omim.org/entry/601472 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
+
* [http://omim.org/entry/601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE]
+
* [http://omim.org/entry/601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601344 SPINAL DYSPLASIA, ANHALT TYPE]
+
* [http://omim.org/entry/601344 SPINAL DYSPLASIA, ANHALT TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS]
+
* [http://omim.org/entry/600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290 SMITH-MAGENIS SYNDROME; SMS]
+
* [http://omim.org/entry/182290 SMITH-MAGENIS SYNDROME; SMS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS]
+
* [http://omim.org/entry/183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600325 AMINOPTERIN-LIKE SYNDROME SINE AMINOPTERIN]
+
* [http://omim.org/entry/600325 AMINOPTERIN-LIKE SYNDROME SINE AMINOPTERIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311300 OTOPALATODIGITAL SYNDROME]
+
* [http://omim.org/entry/311300 OTOPALATODIGITAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY]
+
* [http://omim.org/entry/310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186700 SYRINGOMYELIA]
+
* [http://omim.org/entry/186700 SYRINGOMYELIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188800 TIBIAL TORSION, BILATERAL MEDIAL]
+
* [http://omim.org/entry/188800 TIBIAL TORSION, BILATERAL MEDIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME]
+
* [http://omim.org/entry/193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD]
+
* [http://omim.org/entry/309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED]
+
* [http://omim.org/entry/313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS]
+
* [http://omim.org/entry/201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600000 SPONDYLOCAMPTODACTYLY]
+
* [http://omim.org/entry/600000 SPONDYLOCAMPTODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208400 ASPARTYLGLUCOSAMINURIA]
+
* [http://omim.org/entry/208400 ASPARTYLGLUCOSAMINURIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119 SARCOGLYCAN, ALPHA; SGCA]
+
* [http://omim.org/entry/600119 SARCOGLYCAN, ALPHA; SGCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA]
+
* [http://omim.org/entry/211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY]
+
* [http://omim.org/entry/218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219200 CUTIS LAXA WITH BONE DYSTROPHY]
+
* [http://omim.org/entry/219200 CUTIS LAXA WITH BONE DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE]
+
* [http://omim.org/entry/221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE]
+
* [http://omim.org/entry/601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223900 DYSAUTONOMIA, FAMILIAL; DYS]
+
* [http://omim.org/entry/223900 DYSAUTONOMIA, FAMILIAL; DYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS]
+
* [http://omim.org/entry/224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309600 MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA]
+
* [http://omim.org/entry/309600 MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE]
+
* [http://omim.org/entry/309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300004 CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY]
+
* [http://omim.org/entry/300004 CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION]
+
* [http://omim.org/entry/268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000 PTERYGIUM SYNDROME]
+
* [http://omim.org/entry/265000 PTERYGIUM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264180 PSEUDODIASTROPHIC DYSPLASIA]
+
* [http://omim.org/entry/264180 PSEUDODIASTROPHIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234250 HALL-RIGGS MENTAL RETARDATION SYNDROME]
+
* [http://omim.org/entry/234250 HALL-RIGGS MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA]
+
* [http://omim.org/entry/251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
+
* [http://omim.org/entry/304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT]
+
* [http://omim.org/entry/246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253500 MUSCULAR ATROPHY, PROGRESSIVE]
+
* [http://omim.org/entry/253500 MUSCULAR ATROPHY, PROGRESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250600 METATROPIC DWARFISM]
+
* [http://omim.org/entry/250600 METATROPIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED]
+
* [http://omim.org/entry/301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM]
+
* [http://omim.org/entry/271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300061 MENTAL RETARDATION, X-LINKED; DXS6673E]
+
* [http://omim.org/entry/300061 MENTAL RETARDATION, X-LINKED; DXS6673E]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800 MARINESCO-SJOGREN SYNDROME; MSS]
+
* [http://omim.org/entry/248800 MARINESCO-SJOGREN SYNDROME; MSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME]
+
* [http://omim.org/entry/249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS]
+
* [http://omim.org/entry/147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
+
* [http://omim.org/entry/250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1]
+
* [http://omim.org/entry/150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
+
* [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248700 MARDEN-WALKER SYNDROME; MWS]
+
* [http://omim.org/entry/248700 MARDEN-WALKER SYNDROME; MWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194050 WILLIAMS-BEUREN SYNDROME; WBS]
+
* [http://omim.org/entry/194050 WILLIAMS-BEUREN SYNDROME; WBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208900 ATAXIA-TELANGIECTASIA; AT]
+
* [http://omim.org/entry/208900 ATAXIA-TELANGIECTASIA; AT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
+
* [http://omim.org/entry/254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256550 NEURAMINIDASE DEFICIENCY]
+
* [http://omim.org/entry/256550 NEURAMINIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE]
+
* [http://omim.org/entry/259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253220 MUCOPOLYSACCHARIDOSIS TYPE VII]
+
* [http://omim.org/entry/253220 MUCOPOLYSACCHARIDOSIS TYPE VII]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259450 BRUCK SYNDROME]
+
* [http://omim.org/entry/259450 BRUCK SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD]
+
* [http://omim.org/entry/153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154750 MARFANOID HYPERMOBILITY SYNDROME]
+
* [http://omim.org/entry/154750 MARFANOID HYPERMOBILITY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA]
+
* [http://omim.org/entry/229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201200 ACROGERIA]
+
* [http://omim.org/entry/201200 ACROGERIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271510 SPONASTRIME DYSPLASIA]
+
* [http://omim.org/entry/271510 SPONASTRIME DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA]
+
* [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3]
+
* [http://omim.org/entry/134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300 VERTEBRAL ANOMALIES]
+
* [http://omim.org/entry/277300 VERTEBRAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277590 WEAVER SYNDROME]
+
* [http://omim.org/entry/277590 WEAVER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277990 WOLFF MENTAL RETARDATION SYNDROME]
+
* [http://omim.org/entry/277990 WOLFF MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]
+
* [http://omim.org/entry/278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154850 MASTICATORY MUSCLES, HYPERTROPHY OF]
+
* [http://omim.org/entry/154850 MASTICATORY MUSCLES, HYPERTROPHY OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203800 ALSTROM SYNDROME; ALMS1]
+
* [http://omim.org/entry/203800 ALSTROM SYNDROME; ALMS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300088 EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR]
+
* [http://omim.org/entry/300088 EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT]
+
* [http://omim.org/entry/156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302380 CATEL-MANZKE SYNDROME]
+
* [http://omim.org/entry/302380 CATEL-MANZKE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED]
+
* [http://omim.org/entry/302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
+
* [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN]
+
* [http://omim.org/entry/259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305450 FG SYNDROME; FGS1]
+
* [http://omim.org/entry/305450 FG SYNDROME; FGS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600 FOCAL DERMAL HYPOPLASIA; DHOF]
+
* [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300 ENGELMANN DISEASE]
+
* [http://omim.org/entry/131300 ENGELMANN DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS]
+
* [http://omim.org/entry/308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1]
+
* [http://omim.org/entry/120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA]
+
* [http://omim.org/entry/227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE]
+
* [http://omim.org/entry/156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255200 MYOPATHY, CENTRONUCLEAR]
+
* [http://omim.org/entry/255200 MYOPATHY, CENTRONUCLEAR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
+
* [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159550 MYELOCEREBELLAR DISORDER]
+
* [http://omim.org/entry/159550 MYELOCEREBELLAR DISORDER]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180500 RIEGER SYNDROME, TYPE 1; RIEG1]
+
* [http://omim.org/entry/180500 RIEGER SYNDROME, TYPE 1; RIEG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1]
+
* [http://omim.org/entry/145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT]
+
* [http://omim.org/entry/118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA]
+
* [http://omim.org/entry/184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900 POLYCYSTIC KIDNEYS]
+
* [http://omim.org/entry/173900 POLYCYSTIC KIDNEYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225 GTP CYCLOHYDROLASE I; GCH1]
+
* [http://omim.org/entry/600225 GTP CYCLOHYDROLASE I; GCH1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109740 BIFID NOSE]
+
* [http://omim.org/entry/109740 BIFID NOSE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE]
+
* [http://omim.org/entry/183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4]
+
* [http://omim.org/entry/166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH]
+
* [http://omim.org/entry/166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180870 RUVALCABA SYNDROME]
+
* [http://omim.org/entry/180870 RUVALCABA SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180700 ROBINOW SYNDROME]
+
* [http://omim.org/entry/180700 ROBINOW SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
+
* [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177150 PSEUDOACHONDROPLASTIC DYSPLASIA I]
+
* [http://omim.org/entry/177150 PSEUDOACHONDROPLASTIC DYSPLASIA I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
+
* [http://omim.org/entry/255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492 HYALURONIDASE DEFICIENCY]
+
* [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
+
* [http://omim.org/entry/601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168400 PARASTREMMATIC DWARFISM]
+
* [http://omim.org/entry/168400 PARASTREMMATIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602091 LATENT TRANSFORMING GROWTH FACTOR-BETA BINDING PROTEIN 2; LTBP2]
+
* [http://omim.org/entry/602091 LATENT TRANSFORMING GROWTH FACTOR-BETA BINDING PROTEIN 2; LTBP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602419 EARLY GROWTH RESPONSE 3; EGR3]
+
* [http://omim.org/entry/602419 EARLY GROWTH RESPONSE 3; EGR3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC]
+
* [http://omim.org/entry/602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 PRADER-WILLI SYNDROME; PWS]
+
* [http://omim.org/entry/176270 PRADER-WILLI SYNDROME; PWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE]
+
* [http://omim.org/entry/170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783 PARAPLEGIN]
+
* [http://omim.org/entry/602783 PARAPLEGIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108140 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES]
+
* [http://omim.org/entry/108140 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1]
+
* [http://omim.org/entry/100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
+
* [http://omim.org/entry/603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
  
 
====Congenital Dislocation of the Hip====
 
====Congenital Dislocation of the Hip====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142700 HIP, DISLOCATION OF, CONGENITAL]
+
* [http://omim.org/entry/142700 HIP, DISLOCATION OF, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM]
+
* [http://omim.org/entry/601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
+
* [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
+
* [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219200 CUTIS LAXA WITH BONE DYSTROPHY]
+
* [http://omim.org/entry/219200 CUTIS LAXA WITH BONE DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252500 MUCOLIPIDOSIS II; ML2; ML II]
+
* [http://omim.org/entry/252500 MUCOLIPIDOSIS II; ML2; ML II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
+
* [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA]
+
* [http://omim.org/entry/121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150240 LAMININ, BETA-1; LAMB1]
+
* [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149400 KOK DISEASE]
+
* [http://omim.org/entry/149400 KOK DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION]
+
* [http://omim.org/entry/255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269880 SHORT SYNDROME]
+
* [http://omim.org/entry/269880 SHORT SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219100 CUTIS LAXA]
+
* [http://omim.org/entry/219100 CUTIS LAXA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA]
+
* [http://omim.org/entry/184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD]
+
* [http://omim.org/entry/153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106300 ANKYLOSING SPONDYLITIS; AS]
+
* [http://omim.org/entry/106300 ANKYLOSING SPONDYLITIS; AS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM]
+
* [http://omim.org/entry/100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
+
* [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS]
+
* [http://omim.org/entry/270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT]
+
* [http://omim.org/entry/130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600536 INTEGRIN, ALPHA-7; ITGA7]
+
* [http://omim.org/entry/600536 INTEGRIN, ALPHA-7; ITGA7]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147900 JOINT LAXITY, FAMILIAL]
+
* [http://omim.org/entry/147900 JOINT LAXITY, FAMILIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231070 GERODERMA OSTEODYSPLASTICA; GO]
+
* [http://omim.org/entry/231070 GERODERMA OSTEODYSPLASTICA; GO]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA]
+
* [http://omim.org/entry/216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL]
+
* [http://omim.org/entry/271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251450 MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION]
+
* [http://omim.org/entry/251450 MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
+
* [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254090 MUSCULAR DYSTROPHY, SCLEROATONIC]
+
* [http://omim.org/entry/254090 MUSCULAR DYSTROPHY, SCLEROATONIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY]
+
* [http://omim.org/entry/210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182230 SEPTOOPTIC DYSPLASIA]
+
* [http://omim.org/entry/182230 SEPTOOPTIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150600 LEGG-CALVE-PERTHES DISEASE]
+
* [http://omim.org/entry/150600 LEGG-CALVE-PERTHES DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II]
+
* [http://omim.org/entry/108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1]
+
* [http://omim.org/entry/108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107000 ANONYCHIA-ONYCHODYSTROPHY]
+
* [http://omim.org/entry/107000 ANONYCHIA-ONYCHODYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
+
* [http://omim.org/entry/603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260660 PELVISCAPULAR DYSPLASIA]
+
* [http://omim.org/entry/260660 PELVISCAPULAR DYSPLASIA]
  
  
Line 858: Line 858:
  
 
====Cleft Lip====
 
====Cleft Lip====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119530 OROFACIAL CLEFT 1; OFC1]
+
* [http://omim.org/entry/119530 OROFACIAL CLEFT 1; OFC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
+
* [http://omim.org/entry/225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600625 CLEFT LIP, CONGENITAL HEALED]
+
* [http://omim.org/entry/600625 CLEFT LIP, CONGENITAL HEALED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
+
* [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
+
* [http://omim.org/entry/129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119300 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP]
+
* [http://omim.org/entry/119300 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
+
* [http://omim.org/entry/119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE]
+
* [http://omim.org/entry/129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
+
* [http://omim.org/entry/129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300 ROBERTS SYNDROME; RBS]
+
* [http://omim.org/entry/268300 ROBERTS SYNDROME; RBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA]
+
* [http://omim.org/entry/155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE]
+
* [http://omim.org/entry/106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119580 BLEPHAROCHEILODONTIC SYNDROME]
+
* [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE]
+
* [http://omim.org/entry/601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP]
+
* [http://omim.org/entry/174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION]
+
* [http://omim.org/entry/120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277170 VARADI-PAPP SYNDROME]
+
* [http://omim.org/entry/277170 VARADI-PAPP SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE]
+
* [http://omim.org/entry/601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY]
+
* [http://omim.org/entry/216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE]
+
* [http://omim.org/entry/600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
+
* [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY]
+
* [http://omim.org/entry/301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244300 KAPUR-TORIELLO SYNDROME]
+
* [http://omim.org/entry/244300 KAPUR-TORIELLO SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM]
+
* [http://omim.org/entry/242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602077 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2]
+
* [http://omim.org/entry/602077 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE]
+
* [http://omim.org/entry/179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218090 CRANE-HEISE SYNDROME]
+
* [http://omim.org/entry/218090 CRANE-HEISE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING]
+
* [http://omim.org/entry/113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540 CLEFT PALATE; CP]
+
* [http://omim.org/entry/119540 CLEFT PALATE; CP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE]
+
* [http://omim.org/entry/106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
+
* [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602966 OROFACIAL CLEFT 2; OFC2]
+
* [http://omim.org/entry/602966 OROFACIAL CLEFT 2; OFC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY]
+
* [http://omim.org/entry/600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157170 HOLOPROSENCEPHALY 2; HPE2]
+
* [http://omim.org/entry/157170 HOLOPROSENCEPHALY 2; HPE2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600757 OROFACIAL CLEFT 3; OFC3]
+
* [http://omim.org/entry/600757 OROFACIAL CLEFT 3; OFC3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129830 ECTRODACTYLY-CLEFT PALATE SYNDROME]
+
* [http://omim.org/entry/129830 ECTRODACTYLY-CLEFT PALATE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231060 GENITOPALATOCARDIAC SYNDROME]
+
* [http://omim.org/entry/231060 GENITOPALATOCARDIAC SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260150 PALANT CLEFT PALATE SYNDROME]
+
* [http://omim.org/entry/260150 PALANT CLEFT PALATE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183400 SPLIT LOWER LIP]
+
* [http://omim.org/entry/183400 SPLIT LOWER LIP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
+
* [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
+
* [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236110 HOLZGREVE SYNDROME]
+
* [http://omim.org/entry/236110 HOLZGREVE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
+
* [http://omim.org/entry/225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164180 OCULOCEREBROCUTANEOUS SYNDROME]
+
* [http://omim.org/entry/164180 OCULOCEREBROCUTANEOUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311200 OROFACIODIGITAL SYNDROME 1; OFD1]
+
* [http://omim.org/entry/311200 OROFACIODIGITAL SYNDROME 1; OFD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1]
+
* [http://omim.org/entry/236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400 BASAL CELL NEVUS SYNDROME; BCNS]
+
* [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
+
* [http://omim.org/entry/304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193500 WAARDENBURG SYNDROME, TYPE I; WS1]
+
* [http://omim.org/entry/193500 WAARDENBURG SYNDROME, TYPE I; WS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269860 SHORT RIB SYNDROME, BEEMER TYPE]
+
* [http://omim.org/entry/269860 SHORT RIB SYNDROME, BEEMER TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236670 WALKER-WARBURG SYNDROME]
+
* [http://omim.org/entry/236670 WALKER-WARBURG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
+
* [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311450 PALLISTER W SYNDROME]
+
* [http://omim.org/entry/311450 PALLISTER W SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600776 ANOPHTHALMIA-PLUS SYNDROME]
+
* [http://omim.org/entry/600776 ANOPHTHALMIA-PLUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134780 FEMORAL-FACIAL SYNDROME; FFS]
+
* [http://omim.org/entry/134780 FEMORAL-FACIAL SYNDROME; FFS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
+
* [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
+
* [http://omim.org/entry/115470 CAT EYE SYNDROME; CES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
+
* [http://omim.org/entry/601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268850 SAO PAULO MCA/MR SYNDROME]
+
* [http://omim.org/entry/268850 SAO PAULO MCA/MR SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP]
+
* [http://omim.org/entry/601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
+
* [http://omim.org/entry/601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II]
+
* [http://omim.org/entry/263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108300 STICKLER SYNDROME, TYPE I; STL1]
+
* [http://omim.org/entry/108300 STICKLER SYNDROME, TYPE I; STL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217100 CONSTRICTING BANDS, CONGENITAL]
+
* [http://omim.org/entry/217100 CONSTRICTING BANDS, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184705 STEINFELD SYNDROME]
+
* [http://omim.org/entry/184705 STEINFELD SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300000 OPITZ SYNDROME]
+
* [http://omim.org/entry/300000 OPITZ SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400 DIGEORGE SYNDROME; DGS]
+
* [http://omim.org/entry/188400 DIGEORGE SYNDROME; DGS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
+
* [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223200 DISORGANIZATION, MOUSE, HOMOLOG OF]
+
* [http://omim.org/entry/223200 DISORGANIZATION, MOUSE, HOMOLOG OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161200 NAIL-PATELLA SYNDROME; NPS]
+
* [http://omim.org/entry/161200 NAIL-PATELLA SYNDROME; NPS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261540 PETERS ANOMALY WITH SHORT-LIMB DWARFISM]
+
* [http://omim.org/entry/261540 PETERS ANOMALY WITH SHORT-LIMB DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC]
+
* [http://omim.org/entry/244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CR]
+
* [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CR]
  
 
====Cleft Palate====
 
====Cleft Palate====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119530 OROFACIAL CLEFT 1; OFC1]
+
* [http://omim.org/entry/119530 OROFACIAL CLEFT 1; OFC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED]
+
* [http://omim.org/entry/225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540 CLEFT PALATE, ISOLATED; CPI]
+
* [http://omim.org/entry/119540 CLEFT PALATE, ISOLATED; CPI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600625 OROFACIAL CLEFT 11; OFC11]
+
* [http://omim.org/entry/600625 OROFACIAL CLEFT 11; OFC11]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129400 RAPP-HODGKIN SYNDROME; RHS]
+
* [http://omim.org/entry/129400 RAPP-HODGKIN SYNDROME; RHS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
+
* [http://omim.org/entry/164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
+
* [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6]
+
* [http://omim.org/entry/608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119580 BLEPHAROCHEILODONTIC SYNDROME]
+
* [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602966 OROFACIAL CLEFT 2; OFC2]
+
* [http://omim.org/entry/602966 OROFACIAL CLEFT 2; OFC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608874 OROFACIAL CLEFT 5; OFC5]
+
* [http://omim.org/entry/608874 OROFACIAL CLEFT 5; OFC5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 OROFACIAL CLEFT 10, INCLUDED; OFC10, INCLUDED]
+
* [http://omim.org/entry/601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 OROFACIAL CLEFT 10, INCLUDED; OFC10, INCLUDED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE]
+
* [http://omim.org/entry/241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL]
+
* [http://omim.org/entry/258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600757 OROFACIAL CLEFT 3; OFC3]
+
* [http://omim.org/entry/600757 OROFACIAL CLEFT 3; OFC3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612858 OROFACIAL CLEFT 12; OFC12]
+
* [http://omim.org/entry/612858 OROFACIAL CLEFT 12; OFC12]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
+
* [http://omim.org/entry/129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608371 OROFACIAL CLEFT 4]
+
* [http://omim.org/entry/608371 OROFACIAL CLEFT 4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610361 OROFACIAL CLEFT 9]
+
* [http://omim.org/entry/610361 OROFACIAL CLEFT 9]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1]
+
* [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1]
  
 
====Pierre Robin Syndrome====
 
====Pierre Robin Syndrome====
  
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261800 PIERRE ROBIN SYNDROME]
+
*  [http://omim.org/entry/261800 PIERRE ROBIN SYNDROME]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY]
+
*  [http://omim.org/entry/172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
+
*  [http://omim.org/entry/311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302380 CATEL-MANZKE SYNDROME]
+
*  [http://omim.org/entry/302380 CATEL-MANZKE SYNDROME]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS]
+
*  [http://omim.org/entry/277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108300 STICKLER SYNDROME, TYPE I; STL1]
+
*  [http://omim.org/entry/108300 STICKLER SYNDROME, TYPE I; STL1]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
+
*  [http://omim.org/entry/254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE]
+
*  [http://omim.org/entry/217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143200 HYALOIDEORETINAL DEGENERATION OF WAGNER]
+
*  [http://omim.org/entry/143200 HYALOIDEORETINAL DEGENERATION OF WAGNER]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME]
+
*  [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE]
+
*  [http://omim.org/entry/208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES]
+
*  [http://omim.org/entry/602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154780 MARSHALL SYNDROME]
+
*  [http://omim.org/entry/154780 MARSHALL SYNDROME]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117650 CEREBROCOSTOMANDIBULAR SYNDROME]
+
*  [http://omim.org/entry/117650 CEREBROCOSTOMANDIBULAR SYNDROME]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184840 STICKLER SYNDROME, TYPE II; STL2]
+
*  [http://omim.org/entry/184840 STICKLER SYNDROME, TYPE II; STL2]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2]
+
*  [http://omim.org/entry/120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA]
+
*  [http://omim.org/entry/601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1]
+
*  [http://omim.org/entry/120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900 HEMOGLOBIN--BETA LOCUS; HBB]
+
*  [http://omim.org/entry/141900 HEMOGLOBIN--BETA LOCUS; HBB]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128600 EAR MALFORMATION]
+
*  [http://omim.org/entry/128600 EAR MALFORMATION]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
+
*  [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM]
+
*  [http://omim.org/entry/225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM]
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131240 ENDOTHELIN 1; EDN1]
+
*  [http://omim.org/entry/131240 ENDOTHELIN 1; EDN1]
  
 
=== Urogenital ===
 
=== Urogenital ===
 
====Kidney====
 
====Kidney====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100100 Prune Belly Syndrome]  
+
* [http://omim.org/entry/100100 Prune Belly Syndrome]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143400 Multicystic Renal Dysplasia]  
+
* [http://omim.org/entry/143400 Multicystic Renal Dysplasia]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900 Polycystic Kidneys]  
+
* [http://omim.org/entry/173900 Polycystic Kidneys]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191830 Urogenital Adysplasia]  
+
* [http://omim.org/entry/191830 Urogenital Adysplasia]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194070 Wilms Tumor 1]  
+
* [http://omim.org/entry/194070 Wilms Tumor 1]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264140 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness]  
+
* [http://omim.org/entry/264140 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600057 Exstrophy of Bladder]  
+
* [http://omim.org/entry/600057 Exstrophy of Bladder]  
  
 
====Gonad====
 
====Gonad====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2]  
+
* [http://omim.org/entry/154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL]  
+
* [http://omim.org/entry/219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL]  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278850 XX MALE SYNDROME]
+
* [http://omim.org/entry/278850 XX MALE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY]
+
* [http://omim.org/entry/306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=424500 GONADOBLASTOMA; GBY]
+
* [http://omim.org/entry/424500 GONADOBLASTOMA; GBY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603737 OVARIAN GERM CELL CANCER]
+
* [http://omim.org/entry/603737 OVARIAN GERM CELL CANCER]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143150 H-Y ANTIGEN RECEPTOR]
+
* [http://omim.org/entry/143150 H-Y ANTIGEN RECEPTOR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000 SEX-DETERMINING REGION Y; SRY]
+
* [http://omim.org/entry/480000 SEX-DETERMINING REGION Y; SRY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486 DELETED IN AZOOSPERMIA-LIKE; DAZL]
+
* [http://omim.org/entry/601486 DELETED IN AZOOSPERMIA-LIKE; DAZL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA]
+
* [http://omim.org/entry/183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194070 WILMS TUMOR 1; WT1]
+
* [http://omim.org/entry/194070 WILMS TUMOR 1; WT1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136680 FRASIER SYNDROME]
+
* [http://omim.org/entry/136680 FRASIER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142910 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A REDUCTASE; HMGCR]
+
* [http://omim.org/entry/142910 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A REDUCTASE; HMGCR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR]
+
* [http://omim.org/entry/136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM]
+
* [http://omim.org/entry/194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600957 ANTI-MULLERIAN HORMONE; AMH]
+
* [http://omim.org/entry/600957 ANTI-MULLERIAN HORMONE; AMH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
+
* [http://omim.org/entry/202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
  
 
===Gastrointestinal Tract===
 
===Gastrointestinal Tract===
Line 1,015: Line 1,015:
 
====Hirschsprung Disease====
 
====Hirschsprung Disease====
  
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142623 HIRSCHSPRUNG DISEASE]
+
* [http://omim.org/entry/ [http://omim.org/entry/142623 HIRSCHSPRUNG DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277580 WAARDENBURG-SHAH SYNDROME]
+
* [http://omim.org/entry/ [http://omim.org/entry/277580 WAARDENBURG-SHAH SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF]
+
* [http://omim.org/entry/ [http://omim.org/entry/209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600156 HIRSCHSPRUNG DISEASE 3]
+
* [http://omim.org/entry/600156 HIRSCHSPRUNG DISEASE 3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600155 HIRSCHSPRUNG DISEASE 2; HSCR2]
+
* [http://omim.org/entry/ [http://omim.org/entry/600155 HIRSCHSPRUNG DISEASE 2; HSCR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
+
* [http://omim.org/entry/235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES]
+
* [http://omim.org/entry/235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS]
+
* [http://omim.org/entry/235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY]
+
* [http://omim.org/entry/306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT]
+
* [http://omim.org/entry/235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235735 HIRSCHSPRUNG DISEASE WITH BILATERAL BICOLORED IRIDES]
+
* [http://omim.org/entry/235735 HIRSCHSPRUNG DISEASE WITH BILATERAL BICOLORED IRIDES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761 RET PROTOONCOGENE; RET]
+
* [http://omim.org/entry/164761 RET PROTOONCOGENE; RET]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB]
+
* [http://omim.org/entry/131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242 ENDOTHELIN 3; EDN3]
+
* [http://omim.org/entry/131242 ENDOTHELIN 3; EDN3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF]
+
* [http://omim.org/entry/600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229 SRY-BOX 10; SOX10]
+
* [http://omim.org/entry/602229 SRY-BOX 10; SOX10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193500 WAARDENBURG SYNDROME, TYPE I; WS1]
+
* [http://omim.org/entry/193500 WAARDENBURG SYNDROME, TYPE I; WS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A]
+
* [http://omim.org/entry/ [http://omim.org/entry/193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602018 NEURTURIN; NRTN]
+
* [http://omim.org/entry/602018 NEURTURIN; NRTN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1]
+
* [http://omim.org/entry/600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840 L1 CELL ADHESION MOLECULE; L1CAM]
+
* [http://omim.org/entry/308840 L1 CELL ADHESION MOLECULE; L1CAM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065 INTEGRIN, BETA-2; ITGB2]
+
* [http://omim.org/entry/600065 INTEGRIN, BETA-2; ITGB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1]
+
* [http://omim.org/entry/ [http://omim.org/entry/155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED]
+
* [http://omim.org/entry/300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172800 PIEBALD TRAIT; PBT]
+
* [http://omim.org/entry/ [http://omim.org/entry/172800 PIEBALD TRAIT; PBT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
+
* [http://omim.org/entry/209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
+
* [http://omim.org/entry/ [http://omim.org/entry/115470 CAT EYE SYNDROME; CES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
+
* [http://omim.org/entry/250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190685 TRISOMY 21]
+
* [http://omim.org/entry/ [http://omim.org/entry/190685 TRISOMY 21]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
+
* [http://omim.org/entry/255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE]
+
* [http://omim.org/entry/259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA]
+
* [http://omim.org/entry/221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236700 MCKUSICK-KAUFMAN SYNDROME; MKKS]
+
* [http://omim.org/entry/236700 MCKUSICK-KAUFMAN SYNDROME; MKKS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
+
* [http://omim.org/entry/ [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
+
* [http://omim.org/entry/ [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF]
+
* [http://omim.org/entry/304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1]
+
* [http://omim.org/entry/601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
+
* [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202550 AGANGLIONOSIS, TOTAL INTESTINAL]
+
* [http://omim.org/entry/202550 AGANGLIONOSIS, TOTAL INTESTINAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2]
+
* [http://omim.org/entry/ [http://omim.org/entry/171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171300 PHEOCHROMOCYTOMA]
+
* [http://omim.org/entry/ [http://omim.org/entry/171300 PHEOCHROMOCYTOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
+
* [http://omim.org/entry/ [http://omim.org/entry/162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF]
+
* [http://omim.org/entry/156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1]
+
* [http://omim.org/entry/154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B]
+
* [http://omim.org/entry/601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223200 DISORGANIZATION, MOUSE, HOMOLOG OF]
+
* [http://omim.org/entry/223200 DISORGANIZATION, MOUSE, HOMOLOG OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820 KLEIN-WAARDENBURG SYNDROME]
+
* [http://omim.org/entry/ [http://omim.org/entry/148820 KLEIN-WAARDENBURG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126800 DUANE SYNDROME]
+
* [http://omim.org/entry/126800 DUANE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM]
+
* [http://omim.org/entry/602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM]
  
  
 
===Coelomic Cavity===
 
===Coelomic Cavity===
 
====Diaphragmatic Hernia====
 
====Diaphragmatic Hernia====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142340 HERNIA, DIAPHRAGMATIC]
+
* [http://omim.org/entry/142340 HERNIA, DIAPHRAGMATIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 FRYNS SYNDROME; FRNS]
+
* [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306950 HERNIA, ANTERIOR DIAPHRAGMATIC]
+
* [http://omim.org/entry/306950 HERNIA, ANTERIOR DIAPHRAGMATIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222448 DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS]
+
* [http://omim.org/entry/222448 DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA]
+
* [http://omim.org/entry/226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222400 DIAPHRAGM, UNILATERAL AGENESIS OF]
+
* [http://omim.org/entry/222400 DIAPHRAGM, UNILATERAL AGENESIS OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT]
+
* [http://omim.org/entry/223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
+
* [http://omim.org/entry/122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
+
* [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM]
+
* [http://omim.org/entry/194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313850 THORACOABDOMINAL SYNDROME; THAS]
+
* [http://omim.org/entry/313850 THORACOABDOMINAL SYNDROME; THAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1]
+
* [http://omim.org/entry/130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES]
+
* [http://omim.org/entry/110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM]
+
* [http://omim.org/entry/267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169400 PELGER-HUET ANOMALY]
+
* [http://omim.org/entry/169400 PELGER-HUET ANOMALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206500 ANENCEPHALY]
+
* [http://omim.org/entry/206500 ANENCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194190 WOLF-HIRSCHHORN SYNDROME; WHS]
+
* [http://omim.org/entry/194190 WOLF-HIRSCHHORN SYNDROME; WHS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179820 RENIN; REN]
+
* [http://omim.org/entry/179820 RENIN; REN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
+
* [http://omim.org/entry/309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134770 FERRITIN HEAVY CHAIN 1; FTH1]
+
* [http://omim.org/entry/134770 FERRITIN HEAVY CHAIN 1; FTH1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304110 CRANIOFRONTONASAL SYNDROME; CFNS]
+
* [http://omim.org/entry/304110 CRANIOFRONTONASAL SYNDROME; CFNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600 FOCAL DERMAL HYPOPLASIA; DHOF]
+
* [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150240 LAMININ, BETA-1; LAMB1]
+
* [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219100 CUTIS LAXA]
+
* [http://omim.org/entry/219100 CUTIS LAXA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS]
+
* [http://omim.org/entry/202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1]
+
* [http://omim.org/entry/215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265430 PULMONARY HYPOPLASIA]
+
* [http://omim.org/entry/265430 PULMONARY HYPOPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY]
+
* [http://omim.org/entry/276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
+
* [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211750 C SYNDROME]
+
* [http://omim.org/entry/211750 C SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122920 CRANIOFRONTAL DYSPLASIA]
+
* [http://omim.org/entry/122920 CRANIOFRONTAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE]
+
* [http://omim.org/entry/601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601803 PALLISTER-KILLIAN SYNDROME; PKS]
+
* [http://omim.org/entry/601803 PALLISTER-KILLIAN SYNDROME; PKS]
  
 
===Respiratory===
 
===Respiratory===
Line 1,106: Line 1,106:
 
[[Respiratory System - Abnormalities]]
 
[[Respiratory System - Abnormalities]]
  
*  [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142340 HERNIA, DIAPHRAGMATIC]
+
*  [http://omim.org/entry/142340 HERNIA, DIAPHRAGMATIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1]
+
* [http://omim.org/entry/164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182280 SMALL CELL CANCER OF THE LUNG; SCCL]
+
* [http://omim.org/entry/182280 SMALL CELL CANCER OF THE LUNG; SCCL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211980 CANCER OF LUNG]
+
* [http://omim.org/entry/211980 CANCER OF LUNG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600597 PHOSPHOLIPASE C, EPSILON; PLCE]
+
* [http://omim.org/entry/600597 PHOSPHOLIPASE C, EPSILON; PLCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219600 CYSTIC DISEASE OF LUNG]
+
* [http://omim.org/entry/219600 CYSTIC DISEASE OF LUNG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11]
+
* [http://omim.org/entry/603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601612 LUNG AGENESIS]
+
* [http://omim.org/entry/601612 LUNG AGENESIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142409 HEPATOCYTE GROWTH FACTOR; HGF]
+
* [http://omim.org/entry/142409 HEPATOCYTE GROWTH FACTOR; HGF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA]
+
* [http://omim.org/entry/274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602016 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR]
+
* [http://omim.org/entry/602016 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268670 RUTLEDGE LETHAL MULTIPLE]
+
* [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=CONGENITAL ANOMALY SYNDROME]
+
* [http://omim.org/entry/CONGENITAL ANOMALY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170 TUMOR PROTEIN p53; TP53]
+
* [http://omim.org/entry/191170 TUMOR PROTEIN p53; TP53]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400 PROTEASE INHIBITOR 1; PI]
+
* [http://omim.org/entry/107400 PROTEASE INHIBITOR 1; PI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2]
+
* [http://omim.org/entry/190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR]
+
* [http://omim.org/entry/602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700 CYSTIC FIBROSIS; CF]
+
* [http://omim.org/entry/219700 CYSTIC FIBROSIS; CF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D]
+
* [http://omim.org/entry/124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1]
+
* [http://omim.org/entry/108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151623 LI-FRAUMENI SYNDROME; LFS]
+
* [http://omim.org/entry/151623 LI-FRAUMENI SYNDROME; LFS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS]
+
* [http://omim.org/entry/190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200 RETINOBLASTOMA; RB1]
+
* [http://omim.org/entry/180200 RETINOBLASTOMA; RB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160 THYROID HORMONE RECEPTOR, BETA; THRB]
+
* [http://omim.org/entry/190160 THYROID HORMONE RECEPTOR, BETA; THRB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B]
+
* [http://omim.org/entry/603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142460 SYNDECAN 2; SDC2]
+
* [http://omim.org/entry/142460 SYNDECAN 2; SDC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1]
+
* [http://omim.org/entry/131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4]
+
* [http://omim.org/entry/603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265120 PULMONARY ALVEOLAR PROTEINOSIS]
+
* [http://omim.org/entry/265120 PULMONARY ALVEOLAR PROTEINOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191325 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L]
+
* [http://omim.org/entry/191325 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102645 ACYLPEPTIDE HYDROLASE; APH]
+
* [http://omim.org/entry/102645 ACYLPEPTIDE HYDROLASE; APH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601089 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5]
+
* [http://omim.org/entry/601089 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME]
+
* [http://omim.org/entry/244400 KARTAGENER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176944 PROTEIN TYROSINE KINASE TKF]
+
* [http://omim.org/entry/176944 PROTEIN TYROSINE KINASE TKF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345 N-ACETYLTRANSFERASE 1; NAT1]
+
* [http://omim.org/entry/108345 N-ACETYLTRANSFERASE 1; NAT1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602056 DEFENSIN, BETA-1; DEFB1]
+
* [http://omim.org/entry/602056 DEFENSIN, BETA-1; DEFB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725 SONIC HEDGEHOG, DROSOPHILA, HOMOLOG OF; SHH]
+
* [http://omim.org/entry/600725 SONIC HEDGEHOG, DROSOPHILA, HOMOLOG OF; SHH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 FRYNS SYNDROME; FRNS]
+
* [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092 TUBEROUS SCLEROSIS 2; TSC2]
+
* [http://omim.org/entry/191092 TUBEROUS SCLEROSIS 2; TSC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1]
+
* [http://omim.org/entry/106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115 FIBROBLAST GROWTH FACTOR 10; FGF10]
+
* [http://omim.org/entry/602115 FIBROBLAST GROWTH FACTOR 10; FGF10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT]
+
* [http://omim.org/entry/107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135000 FIBROCYSTIC PULMONARY DYSPLASIA]
+
* [http://omim.org/entry/135000 FIBROCYSTIC PULMONARY DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137260 GASTRIN-RELEASING POLYPEPTIDE; GRP]
+
* [http://omim.org/entry/137260 GASTRIN-RELEASING POLYPEPTIDE; GRP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= 243700 JOB SYNDROME]
+
* [http://omim.org/entry/ 243700 JOB SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263000 PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP]
+
* [http://omim.org/entry/263000 PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B]
+
* [http://omim.org/entry/603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI]
+
* [http://omim.org/entry/165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182452 SOMATOSTATIN RECEPTOR 2; SSTR2]
+
* [http://omim.org/entry/182452 SOMATOSTATIN RECEPTOR 2; SSTR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760 CARBONIC ANHYDRASE IV; CA4]
+
* [http://omim.org/entry/114760 CARBONIC ANHYDRASE IV; CA4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A]
+
* [http://omim.org/entry/116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950 ALPHA-2-MACROGLOBULIN; A2M]
+
* [http://omim.org/entry/103950 ALPHA-2-MACROGLOBULIN; A2M]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620 AMINOACYLASE 1; ACY1]
+
* [http://omim.org/entry/104620 AMINOACYLASE 1; ACY1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601281 SEMAPHORIN A-V]
+
* [http://omim.org/entry/601281 SEMAPHORIN A-V]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350 PLASMINOGEN; PLG]
+
* [http://omim.org/entry/173350 PLASMINOGEN; PLG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD]
+
* [http://omim.org/entry/178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2]
+
* [http://omim.org/entry/603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156240 MESOTHELIOMA, MALIGNANT]
+
* [http://omim.org/entry/156240 MESOTHELIOMA, MALIGNANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601159 CHEMOKINE (C-C) RECEPTOR 1; CMKBR1]
+
* [http://omim.org/entry/601159 CHEMOKINE (C-C) RECEPTOR 1; CMKBR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225350 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4]
+
* [http://omim.org/entry/225350 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138350 GLUTATHIONE S-TRANSFERASE, MU 1; GSTM1]
+
* [http://omim.org/entry/138350 GLUTATHIONE S-TRANSFERASE, MU 1; GSTM1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136950 PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE]
+
* [http://omim.org/entry/136950 PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA; SCNN1A]
+
* [http://omim.org/entry/600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA; SCNN1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600865 RETICULON 1; RTN1]
+
* [http://omim.org/entry/600865 RETICULON 1; RTN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601124 SEMAPHORIN III/F; SEMA3F]
+
* [http://omim.org/entry/601124 SEMAPHORIN III/F; SEMA3F]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH]
+
* [http://omim.org/entry/168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1]
+
* [http://omim.org/entry/124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1]
+
* [http://omim.org/entry/120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601339 THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING]
+
* [http://omim.org/entry/601339 THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1]
+
* [http://omim.org/entry/141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158343 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP]
+
* [http://omim.org/entry/158343 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1]
+
* [http://omim.org/entry/139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600997 EPHRIN RECEPTOR EphB2; EPHB2]
+
* [http://omim.org/entry/600997 EPHRIN RECEPTOR EphB2; EPHB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603306 TRANSCRIPTION FACTOR 21; TCF21]
+
* [http://omim.org/entry/603306 TRANSCRIPTION FACTOR 21; TCF21]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G]
+
* [http://omim.org/entry/600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178500 PULMONARY FIBROSIS, IDIOPATHIC]
+
* [http://omim.org/entry/178500 PULMONARY FIBROSIS, IDIOPATHIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603250 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6]
+
* [http://omim.org/entry/603250 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601364 CADHERIN 13; CDH13]
+
* [http://omim.org/entry/601364 CADHERIN 13; CDH13]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203300 HERMANSKY-PUDLAK SYNDROME; HPS]
+
* [http://omim.org/entry/203300 HERMANSKY-PUDLAK SYNDROME; HPS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603120 QUIESCIN Q6; QSCN6]
+
* [http://omim.org/entry/603120 QUIESCIN Q6; QSCN6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB]
+
* [http://omim.org/entry/178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602215 DEFENSIN, BETA-2; DEFB2]
+
* [http://omim.org/entry/602215 DEFENSIN, BETA-2; DEFB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113705 BREAST CANCER, TYPE 1; BRCA1]
+
* [http://omim.org/entry/113705 BREAST CANCER, TYPE 1; BRCA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194533 ZINC FINGER PROTEIN 35; ZNF35]
+
* [http://omim.org/entry/194533 ZINC FINGER PROTEIN 35; ZNF35]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153600 MACROGLOBULINEMIA, WALDENSTROM; WM]
+
* [http://omim.org/entry/153600 MACROGLOBULINEMIA, WALDENSTROM; WM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1]
+
* [http://omim.org/entry/170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1]
+
* [http://omim.org/entry/190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2]
+
* [http://omim.org/entry/300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B]
+
* [http://omim.org/entry/172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY]
+
* [http://omim.org/entry/108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2]
+
* [http://omim.org/entry/602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602913 CYTOKINE-INDUCIBLE KINASE; CNK]
+
* [http://omim.org/entry/602913 CYTOKINE-INDUCIBLE KINASE; CNK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300091 FOS-INDUCED GROWTH FACTOR; FIGF]
+
* [http://omim.org/entry/300091 FOS-INDUCED GROWTH FACTOR; FIGF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4]
+
* [http://omim.org/entry/118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114400 CANCER]
+
* [http://omim.org/entry/114400 CANCER]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D]
+
* [http://omim.org/entry/601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB]
+
* [http://omim.org/entry/138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA]
+
* [http://omim.org/entry/116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114900 CARCINOID, INTESTINAL]
+
* [http://omim.org/entry/114900 CARCINOID, INTESTINAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS]
+
* [http://omim.org/entry/308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138321 GLUTATHIONE PEROXIDASE 3; GPX3]
+
* [http://omim.org/entry/138321 GLUTATHIONE PEROXIDASE 3; GPX3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE-1]
+
* [http://omim.org/entry/601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE-1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY]
+
* [http://omim.org/entry/123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602560 TRACHEAL ANTIMICROBIAL PEPTIDE]
+
* [http://omim.org/entry/602560 TRACHEAL ANTIMICROBIAL PEPTIDE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313850 THORACOABDOMINAL SYNDROME; THAS]
+
* [http://omim.org/entry/313850 THORACOABDOMINAL SYNDROME; THAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601252 FICOLIN 1; FCN1]
+
* [http://omim.org/entry/601252 FICOLIN 1; FCN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602614 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1]
+
* [http://omim.org/entry/602614 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117550 CEREBRAL GIGANTISM]
+
* [http://omim.org/entry/117550 CEREBRAL GIGANTISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510 PALLISTER-HALL SYNDROME; PHS]
+
* [http://omim.org/entry/146510 PALLISTER-HALL SYNDROME; PHS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602908 B5T OVEREXPRESSED GENE]
+
* [http://omim.org/entry/602908 B5T OVEREXPRESSED GENE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236680 HYDROLETHALUS SYNDROME]
+
* [http://omim.org/entry/236680 HYDROLETHALUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236000 HODGKIN DISEASE]
+
* [http://omim.org/entry/236000 HODGKIN DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA]
+
* [http://omim.org/entry/147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132700 EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC]
+
* [http://omim.org/entry/132700 EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601153 FRAGILE HISTIDINE TRIAD GENE; FHIT]
+
* [http://omim.org/entry/601153 FRAGILE HISTIDINE TRIAD GENE; FHIT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2]
+
* [http://omim.org/entry/600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB]
+
* [http://omim.org/entry/131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116845 CATHEPSIN S; CTSS]
+
* [http://omim.org/entry/116845 CATHEPSIN S; CTSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130710 EMPHYSEMA, CONGENITAL LOBAR; CLE]
+
* [http://omim.org/entry/130710 EMPHYSEMA, CONGENITAL LOBAR; CLE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211890 CAMPOMELIA, CUMMING TYPE]
+
* [http://omim.org/entry/211890 CAMPOMELIA, CUMMING TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151570 LEUKOTRIENE A4 HYDROLASE; LTA4H]
+
* [http://omim.org/entry/151570 LEUKOTRIENE A4 HYDROLASE; LTA4H]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273395 TETRA-AMELIA WITH PULMONARY HYPOPLASIA]
+
* [http://omim.org/entry/273395 TETRA-AMELIA WITH PULMONARY HYPOPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208500 ASPHYXIATING THORACIC DYSTROPHY; ATD]
+
* [http://omim.org/entry/208500 ASPHYXIATING THORACIC DYSTROPHY; ATD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS]
+
* [http://omim.org/entry/601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA]
+
* [http://omim.org/entry/200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635 THYROID TRANSCRIPTION FACTOR 1; TITF1]
+
* [http://omim.org/entry/600635 THYROID TRANSCRIPTION FACTOR 1; TITF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900 HEMOGLOBIN--BETA LOCUS; HBB]
+
* [http://omim.org/entry/141900 HEMOGLOBIN--BETA LOCUS; HBB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340 ARGININE VASOPRESSIN; AVP]
+
* [http://omim.org/entry/192340 ARGININE VASOPRESSIN; AVP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1]
+
* [http://omim.org/entry/601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300107 BOMBESIN-LIKE RECEPTOR 3; BRS3]
+
* [http://omim.org/entry/300107 BOMBESIN-LIKE RECEPTOR 3; BRS3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162332 NEUROKININ 3 RECEPTOR; NK3R]
+
* [http://omim.org/entry/162332 NEUROKININ 3 RECEPTOR; NK3R]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG]
+
* [http://omim.org/entry/176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF]
+
* [http://omim.org/entry/179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3]
+
* [http://omim.org/entry/190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY]
+
* [http://omim.org/entry/158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE]
+
* [http://omim.org/entry/183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200 NEUROFIBROMATOSIS, TYPE I; NF1]
+
* [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162323 TACHYKININ 1 RECEPTOR; TACR1]
+
* [http://omim.org/entry/162323 TACHYKININ 1 RECEPTOR; TACR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC]
+
* [http://omim.org/entry/190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167050 OXYTOCIN--NEUROPHYSIN I; OXT]
+
* [http://omim.org/entry/167050 OXYTOCIN--NEUROPHYSIN I; OXT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180610 RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC]
+
* [http://omim.org/entry/180610 RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3]
+
* [http://omim.org/entry/185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141251 HEME OXYGENASE 2; HMOX2]
+
* [http://omim.org/entry/141251 HEME OXYGENASE 2; HMOX2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137100 GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF]
+
* [http://omim.org/entry/137100 GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142408 MACROPHAGE STIMULATING 1; MST1]
+
* [http://omim.org/entry/142408 MACROPHAGE STIMULATING 1; MST1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS]
+
* [http://omim.org/entry/164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132350 EPIMORPHIN; EPIM]
+
* [http://omim.org/entry/132350 EPIMORPHIN; EPIM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD]
+
* [http://omim.org/entry/143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD]
+
* [http://omim.org/entry/149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123280 CREATINE KINASE, BRAIN TYPE; CKB; CKBB]
+
* [http://omim.org/entry/123280 CREATINE KINASE, BRAIN TYPE; CKB; CKBB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797 FIBRILLIN 1; FBN1]
+
* [http://omim.org/entry/134797 FIBRILLIN 1; FBN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4]
+
* [http://omim.org/entry/168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
+
* [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118910 CHROMOGRANIN A; CHGA]
+
* [http://omim.org/entry/118910 CHROMOGRANIN A; CHGA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114480 CANCER OF THE BREAST, FAMILIAL; BCS]
+
* [http://omim.org/entry/114480 CANCER OF THE BREAST, FAMILIAL; BCS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1]
+
* [http://omim.org/entry/134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA]
+
* [http://omim.org/entry/114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A]
+
* [http://omim.org/entry/126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME]
+
* [http://omim.org/entry/113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2]
+
* [http://omim.org/entry/109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT]
+
* [http://omim.org/entry/172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400 BASAL CELL NEVUS SYNDROME; BCNS]
+
* [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173600 PNEUMOTHORAX, SPONTANEOUS]
+
* [http://omim.org/entry/173600 PNEUMOTHORAX, SPONTANEOUS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION]
+
* [http://omim.org/entry/175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1]
+
* [http://omim.org/entry/109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH]
+
* [http://omim.org/entry/100800 ACHONDROPLASIA; ACH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1]
+
* [http://omim.org/entry/100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155600 MELANOMA, MALIGNANT]
+
* [http://omim.org/entry/155600 MELANOMA, MALIGNANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME]
+
* [http://omim.org/entry/271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1]
+
* [http://omim.org/entry/602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R]
+
* [http://omim.org/entry/600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2]
+
* [http://omim.org/entry/600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED]
+
* [http://omim.org/entry/314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601916 ARGININE-RICH PROTEIN]
+
* [http://omim.org/entry/601916 ARGININE-RICH PROTEIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946 EPHRIN RECEPTOR EphA2; EPHA2]
+
* [http://omim.org/entry/176946 EPHRIN RECEPTOR EphA2; EPHA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1]
+
* [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253240 MUCUS INSPISSATION OF RESPIRATORY TRACT]
+
* [http://omim.org/entry/253240 MUCUS INSPISSATION OF RESPIRATORY TRACT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600718 MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1]
+
* [http://omim.org/entry/600718 MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL]
+
* [http://omim.org/entry/178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246550 LICHTENSTEIN SYNDROME]
+
* [http://omim.org/entry/246550 LICHTENSTEIN SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB]
+
* [http://omim.org/entry/602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600517 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1]
+
* [http://omim.org/entry/600517 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602227 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19]
+
* [http://omim.org/entry/602227 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600133 LAMININ, ALPHA-4; LAMA4]
+
* [http://omim.org/entry/600133 LAMININ, ALPHA-4; LAMA4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602187 ZINC FINGER PROTEIN 195; ZNF195]
+
* [http://omim.org/entry/602187 ZINC FINGER PROTEIN 195; ZNF195]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179610 EPHRIN RECEPTOR EphA1; EPHA1]
+
* [http://omim.org/entry/179610 EPHRIN RECEPTOR EphA1; EPHA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179618 RECOVERIN; RCV1]
+
* [http://omim.org/entry/179618 RECOVERIN; RCV1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A]
+
* [http://omim.org/entry/600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180300 RHEUMATOID ARTHRITIS]
+
* [http://omim.org/entry/180300 RHEUMATOID ARTHRITIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602261 MATRIX METALLOPROTEINASE 15; MMP15]
+
* [http://omim.org/entry/602261 MATRIX METALLOPROTEINASE 15; MMP15]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307800 HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS]
+
* [http://omim.org/entry/307800 HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30]
+
* [http://omim.org/entry/601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492 HYALURONIDASE DEFICIENCY]
+
* [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1]
+
* [http://omim.org/entry/601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS]
+
* [http://omim.org/entry/219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10]
+
* [http://omim.org/entry/603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600841 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1]
+
* [http://omim.org/entry/600841 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3]
+
* [http://omim.org/entry/603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11]
+
* [http://omim.org/entry/603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1]
+
* [http://omim.org/entry/603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600527 EPHRIN B2; EFNB2]
+
* [http://omim.org/entry/600527 EPHRIN B2; EFNB2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208150 PENA-SHOKEIR SYNDROME, TYPE I]
+
* [http://omim.org/entry/208150 PENA-SHOKEIR SYNDROME, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243800 JOHANSON-BLIZZARD SYNDROME; JBS]
+
* [http://omim.org/entry/243800 JOHANSON-BLIZZARD SYNDROME; JBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600337 BRADYKININ RECEPTOR B1; BDKRB1]
+
* [http://omim.org/entry/600337 BRADYKININ RECEPTOR B1; BDKRB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188060 THROMBOSPONDIN I; THBS1]
+
* [http://omim.org/entry/188060 THROMBOSPONDIN I; THBS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4]
+
* [http://omim.org/entry/602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA]
+
* [http://omim.org/entry/242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650 IMMOTILE CILIA SYNDROME 1; ICS1]
+
* [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2]
+
* [http://omim.org/entry/602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601988 LIM DOMAIN KINASE 2; LIMK2]
+
* [http://omim.org/entry/601988 LIM DOMAIN KINASE 2; LIMK2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE]
+
* [http://omim.org/entry/309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601835 CHEMOKINE (C-C) RECEPTOR 6; CMKBR6]
+
* [http://omim.org/entry/601835 CHEMOKINE (C-C) RECEPTOR 6; CMKBR6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2]
+
* [http://omim.org/entry/601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2]
+
* [http://omim.org/entry/300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190315 SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3]
+
* [http://omim.org/entry/190315 SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601923 SEMAPHORIN IV]
+
* [http://omim.org/entry/601923 SEMAPHORIN IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227850 FANCONI-LIKE SYNDROME]
+
* [http://omim.org/entry/227850 FANCONI-LIKE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10]
+
* [http://omim.org/entry/601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601033 LAMININ, ALPHA-5; LAMA5]
+
* [http://omim.org/entry/601033 LAMININ, ALPHA-5; LAMA5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA]
+
* [http://omim.org/entry/267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192020 UTEROGLOBIN; UGB]
+
* [http://omim.org/entry/192020 UTEROGLOBIN; UGB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1]
+
* [http://omim.org/entry/192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603165 ECZEMA, ATOPIC]
+
* [http://omim.org/entry/603165 ECZEMA, ATOPIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12; TNFRSF12]
+
* [http://omim.org/entry/603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12; TNFRSF12]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1]
+
* [http://omim.org/entry/600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=279000 YOUNG SYNDROME]
+
* [http://omim.org/entry/279000 YOUNG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3]
+
* [http://omim.org/entry/602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602294 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A]
+
* [http://omim.org/entry/602294 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192350 VATER ASSOCIATION]
+
* [http://omim.org/entry/192350 VATER ASSOCIATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192500 LONG QT SYNDROME, TYPE 1]
+
* [http://omim.org/entry/192500 LONG QT SYNDROME, TYPE 1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192974 INTEGRIN, ALPHA-2; ITGA2]
+
* [http://omim.org/entry/192974 INTEGRIN, ALPHA-2; ITGA2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193670 WHIM SYNDROME]
+
* [http://omim.org/entry/193670 WHIM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1]
+
* [http://omim.org/entry/156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154705 MARFAN-LIKE CONNECTIVE TISSUE DISORDER]
+
* [http://omim.org/entry/154705 MARFAN-LIKE CONNECTIVE TISSUE DISORDER]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES]
+
* [http://omim.org/entry/208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP]
+
* [http://omim.org/entry/154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS]
+
* [http://omim.org/entry/202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211400 BRONCHIECTASIS]
+
* [http://omim.org/entry/211400 BRONCHIECTASIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5]
+
* [http://omim.org/entry/152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157145 MICROSEMINOPROTEIN, BETA; MSMB]
+
* [http://omim.org/entry/157145 MICROSEMINOPROTEIN, BETA; MSMB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY]
+
* [http://omim.org/entry/218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2]
+
* [http://omim.org/entry/156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450 LYSOZYME; LYZ]
+
* [http://omim.org/entry/153450 LYSOZYME; LYZ]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150292 LAMININ, GAMMA-2; LAMC2]
+
* [http://omim.org/entry/150292 LAMININ, GAMMA-2; LAMC2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190930 TROPOMODULIN; TMOD]
+
* [http://omim.org/entry/190930 TROPOMODULIN; TMOD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF]
+
* [http://omim.org/entry/220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150240 LAMININ, BETA-1; LAMB1]
+
* [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1]
+
* [http://omim.org/entry/191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158070 MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1]
+
* [http://omim.org/entry/158070 MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160994 N-ACETYLGLUCOSAMINE RECEPTOR, THYROID]
+
* [http://omim.org/entry/160994 N-ACETYLGLUCOSAMINE RECEPTOR, THYROID]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162341 NEUROMEDIN B RECEPTOR; NMBR]
+
* [http://omim.org/entry/162341 NEUROMEDIN B RECEPTOR; NMBR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162643 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R]
+
* [http://omim.org/entry/162643 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT]
+
* [http://omim.org/entry/187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I]
+
* [http://omim.org/entry/233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729 NITRIC OXIDE SYNTHASE 3; NOS3]
+
* [http://omim.org/entry/163729 NITRIC OXIDE SYNTHASE 3; NOS3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2]
+
* [http://omim.org/entry/164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153200 LYMPHEDEMA, HEREDITARY II]
+
* [http://omim.org/entry/153200 LYMPHEDEMA, HEREDITARY II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147561 INTEGRIN, BETA-5; ITGB5]
+
* [http://omim.org/entry/147561 INTEGRIN, BETA-5; ITGB5]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188595 THYROTROPH EMBRYONIC FACTOR; TEF]
+
* [http://omim.org/entry/188595 THYROTROPH EMBRYONIC FACTOR; TEF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239500 HYPERPROLINEMIA, TYPE I]
+
* [http://omim.org/entry/239500 HYPERPROLINEMIA, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES]
+
* [http://omim.org/entry/190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1]
+
* [http://omim.org/entry/164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189971 E2F TRANSCRIPTION FACTOR 1; E2F1]
+
* [http://omim.org/entry/189971 E2F TRANSCRIPTION FACTOR 1; E2F1]
 
187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]
 
187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187520 TETRANECTIN; TNA]
+
* [http://omim.org/entry/187520 TETRANECTIN; TNA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
+
* [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245650 LARSEN-LIKE SYNDROME, LETHAL TYPE]
+
* [http://omim.org/entry/245650 LARSEN-LIKE SYNDROME, LETHAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246400 LETTERER-SIWE DISEASE]
+
* [http://omim.org/entry/246400 LETTERER-SIWE DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186854 SOLUTE CARRIER FAMILY 6, MEMBER 6; SLC6A6]
+
* [http://omim.org/entry/186854 SOLUTE CARRIER FAMILY 6, MEMBER 6; SLC6A6]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A]
+
* [http://omim.org/entry/164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION]
+
* [http://omim.org/entry/210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185430 CLUSTERIN; CLU]
+
* [http://omim.org/entry/185430 CLUSTERIN; CLU]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1]
+
* [http://omim.org/entry/182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1]
* [http:
+
* [http://omim.org/entry/ [http://omim.org/entry/256450 NESIDIOBLASTOSIS OF PANCREAS]
 +
* [http://omim.org/entry/256520 NEU-LAXOVA SYNDROME; NLS]
 +
* [http://omim.org/entry/165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3]
 +
* [http://omim.org/entry/210900 BLOOM SYNDROME; BLM]
 +
* [http://omim.org/entry/259450 BRUCK SYNDROME]
 +
* [http
  
  

Revision as of 11:06, 18 June 2015

Embryology - 10 Aug 2020    Facebook link Pinterest link Twitter link  Expand to Translate  
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A personal message from Dr Mark Hill (May 2020)  
Mark Hill.jpg
I have decided to take early retirement in September 2020. During the many years online I have received wonderful feedback from many readers, researchers and students interested in human embryology. I especially thank my research collaborators and contributors to the site. The good news is Embryology will remain online and I will continue my association with UNSW Australia. I look forward to updating and including the many exciting new discoveries in Embryology!

Introduction

Victor McKusick (1921-2008)
Victor McKusick (1921-2008)

There are many different Online Mendelian Inheritence in Man (OMIM) reference materials linked and used in UNSW Embryology. Selected OMIM references can also be found in the Abnormalities section of each page. There are also search buttons that will perform searches using specific term(s) of external databases. Some search results will allow access to the full original document, while others may require a Journal subscription to access the full document.


Students when referencing specific materials should as much as possible cite the original Research article and not Review articles. When wanting to give a broad overview or summaries of the field, the Review articles should be cited (and indicated as "reviews"). Students should also avoid direct text cut and paste and if absolutely necessary should place in "quotation marks" citing the original reference.


Victor McKusick (1921-2008) was a US medical geneticist who while at the Johns Hopkins in 1957 conceived and compiled Mendelian Inheritance in Man, later becoming the Online Mendelian Inheritance in Man (OMIM). Links are provided to OMIM pages throughout the Embryology website.


About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM



Links: Abnormal Development - Genetic | OMIM | Citing OMIM?

Page Links


OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

Cardiovascular Links: cardiovascular | Heart Tutorial | Lecture - Early Vascular | Lecture - Heart | Movies | 2016 Cardiac Review | heart | coronary circulation | heart valve | heart rate | Circulation | blood | blood vessel | blood vessel histology | heart histology | Lymphatic | ductus venosus | spleen | Stage 22 | cardiovascular abnormalities | OMIM | 2012 ECHO Meeting | Category:Cardiovascular
Historic Embryology - Cardiovascular 
1902 Vena cava inferior | 1905 Brain Blood Vessels | 1909 Cervical Veins | 1909 Dorsal aorta and umbilical veins | 1912 Heart | 1912 Human Heart | 1914 Earliest Blood-Vessels | 1915 Congenital Cardiac Disease | 1915 Dura Venous Sinuses | 1916 Blood cell origin | 1916 Pars Membranacea Septi | 1919 Lower Limb Arteries | 1921 Human Brain Vascular | 1921 Spleen | 1922 Aortic-Arch System | 1922 Pig Forelimb Arteries | 1922 Chicken Pulmonary | 1923 Head Subcutaneous Plexus | 1923 Ductus Venosus | 1925 Venous Development | 1927 Stage 11 Heart | 1928 Heart Blood Flow | 1935 Aorta | 1935 Venous valves | 1938 Pars Membranacea Septi | 1938 Foramen Ovale | 1939 Atrio-Ventricular Valves | 1940 Vena cava inferior | 1940 Early Hematopoiesis | 1941 Blood Formation | 1942 Truncus and Conus Partitioning | Ziegler Heart Models | 1951 Heart Movie | 1954 Week 9 Heart | 1957 Cranial venous system | 1959 Brain Arterial Anastomoses | Historic Embryology Papers | 2012 ECHO Meeting | 2016 Cardiac Review | Historic Disclaimer

Tetralogy of Fallot

Atrial Septal Defect

Musculoskeletal

Muscular Dystrophy

Syndactyly


Scoliosis

Congenital Dislocation of the Hip


Head and Neck

Cleft Lip

Cleft Palate

Pierre Robin Syndrome

Urogenital

Kidney

Gonad

Gastrointestinal Tract

Hirschsprung Disease