OMIM References: Difference between revisions
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{{Header}} | |||
==Introduction== | ==Introduction== | ||
There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found | [[File:Victor McKusick.jpg|thumb|alt=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. | 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}} | |||
:Note a European based online database [http://www.orpha.net/consor/cgi-bin/index.php Orphanet] describes rare diseases. | |||
'''Links:''' [[Abnormal Development - Genetic]] | [http://www.omim.org OMIM] | [http://www.omim.org/help/faq Citing OMIM?] | |||
{| class="wikitable mw-collapsible mw-collapsed" | |||
! Citing a specific entry in OMIM | |||
|- | |||
| Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM number}: {Date last edited}: . World Wide Web URL: http://omim.org/ | |||
|} | |||
===Page Links=== | ===Page Links=== | ||
* [[#Week 1|Week 1]] - [[#Fertilization|Fertilization]] | [[#Spermatozoa_Motility|Spermatozoa Motility]] | [[#Spermatozoa|Spermatozoa]] | * [[#Week 1|Week 1]] - [[#Fertilization|Fertilization]] | [[#Spermatozoa_Motility|Spermatozoa Motility]] | [[#Spermatozoa|Spermatozoa]] | ||
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* [[#Coelomic Cavity|Coelomic Cavity]] - [[#Diaphragmatic_Hernia|Diaphragmatic Hernia]] | * [[#Coelomic Cavity|Coelomic Cavity]] - [[#Diaphragmatic_Hernia|Diaphragmatic Hernia]] | ||
== | |||
==OMIM Pages by Developmental Topic== | |||
=== Week 1 === | === Week 1 === | ||
* [http:// | * [http://omim.org/entry/102530 GLOBOZOOSPERMIA] Acrosome Malformation of Spermatoza | ||
* [http:// | * [http://omim.org/entry/182888 Zona Pellucida Glycoprotein 2; ZP2] | ||
* [http:// | * [http://omim.org/entry/182889 Zona Pellucida Glycoprotein 3A; ZP3A] | ||
* [http:// | * [http://omim.org/entry/314670 X-inactivation-specific Transcript: Xist] | ||
* [http:// | * [http://omim.org/entry/601050 Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK] | ||
====Fertilization==== | ====Fertilization==== | ||
* [http:// | * [http://omim.org/entry/601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1] FERTILIZATION ANTIGEN 1 | ||
* [http:// | * [http://omim.org/entry/601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK] | ||
* [http:// | * [http://omim.org/entry/182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A] | ||
* [http:// | * [http://omim.org/entry/195000 ZONA PELLUCIDA GLYCOPROTEIN 1] | ||
* [http:// | * [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB] | ||
* [http:// | * [http://omim.org/entry/118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1] | ||
* [http:// | * [http://omim.org/entry/102530 ACROSOME MALFORMATION OF SPERMATOZOA] | ||
* [http:// | * [http://omim.org/entry/601533 FERTILIN, BETA; FTNB] | ||
* [http:// | * [http://omim.org/entry/191135 TUBULIN, GAMMA; TUBG] | ||
* [http:// | * [http://omim.org/entry/244400 KARTAGENER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1] | ||
* [http:// | * [http://omim.org/entry/176761 PROLACTIN RECEPTOR; PRLR] | ||
* [http:// | * [http://omim.org/entry/182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | ||
====Spermatozoa Motility==== | ====Spermatozoa Motility==== | ||
* [http:// | * [http://omim.org/entry/244400 KARTAGENER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | ||
* [http:// | * [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK] | ||
* [http:// | * [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1] | ||
* [http:// | * [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB] | ||
* [http:// | * [http://omim.org/entry/264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH] | ||
* [http:// | * [http://omim.org/entry/276900 USHER SYNDROME, TYPE IA; USH1A] | ||
* [http:// | * [http://omim.org/entry/601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP] | ||
* [http:// | * [http://omim.org/entry/601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10] | ||
* [http:// | * [http://omim.org/entry/114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC] | ||
* [http:// | * [http://omim.org/entry/147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2] | ||
* [http:// | * [http://omim.org/entry/176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A] | ||
* [http:// | * [http://omim.org/entry/215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | ||
* [http:// | * [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1] | ||
====Spermatozoa==== | ====Spermatozoa==== | ||
* [http:// | * [http://omim.org/entry/182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1] | ||
* [http:// | * [http://omim.org/entry/602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2] | ||
* [http:// | * [http://omim.org/entry/600930 SPERM ADHESION MOLECULE 1; SPAM1] | ||
* [http:// | * [http://omim.org/entry/182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A] | ||
* [http:// | * [http://omim.org/entry/182882 SPERM PROTAMINE P4; PRM4] | ||
* [http:// | * [http://omim.org/entry/182880 SPERM PROTAMINE P1; PRM1] | ||
* [http:// | * [http://omim.org/entry/125880 DIAPHORASE 3; DIA3] | ||
* [http:// | * [http://omim.org/entry/603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1] | ||
* [http:// | * [http://omim.org/entry/182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | ||
* [http:// | * [http://omim.org/entry/603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | ||
* [http:// | * [http://omim.org/entry/603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP] | ||
* [http:// | * [http://omim.org/entry/182879 SPERM MEMBRANE PROTEIN] | ||
* [http:// | * [http://omim.org/entry/131375 ENOLASE, SPERM SPECIFIC; ENO4] | ||
* [http:// | * [http://omim.org/entry/602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1] | ||
* [http:// | * [http://omim.org/entry/182890 SPERM PROTAMINE P2; PRM2] | ||
* [http:// | * [http://omim.org/entry/182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM] | ||
* [http:// | * [http://omim.org/entry/244400 KARTAGENER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK] | ||
* [http:// | * [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK] | ||
* [http:// | * [http://omim.org/entry/143100 HUNTINGTON DISEASE; HD] | ||
* [http:// | * [http://omim.org/entry/601533 FERTILIN, BETA; FTNB] | ||
* [http:// | * [http://omim.org/entry/150150 LACTATE DEHYDROGENASE-C; LDHC] | ||
* [http:// | * [http://omim.org/entry/106180 DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1] | ||
* [http:// | * [http://omim.org/entry/143890 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC] | ||
* [http:// | * [http://omim.org/entry/309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1] | ||
* [http:// | * [http://omim.org/entry/601193 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1] | ||
* [http:// | * [http://omim.org/entry/313700 ANDROGEN RECEPTOR; AR] | ||
* [http:// | * [http://omim.org/entry/601858 CALMEGIN; CLGN] | ||
* [http:// | * [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1] | ||
* [http:// | * [http://omim.org/entry/168450 PARATHYROID HORMONE; PTH] | ||
* [http:// | * [http://omim.org/entry/601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP] | ||
* [http:// | * [http://omim.org/entry/102530 ACROSOME MALFORMATION OF SPERMATOZOA] | ||
* [http:// | * [http://omim.org/entry/264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH] | ||
* [http:// | * [http://omim.org/entry/107730 APOLIPOPROTEIN B; APOB] | ||
* [http:// | * [http://omim.org/entry/195000 ZONA PELLUCIDA GLYCOPROTEIN 1] | ||
* [http:// | * [http://omim.org/entry/164400 SPINOCEREBELLAR ATAXIA 1; SCA1] | ||
* [http:// | * [http://omim.org/entry/601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10] | ||
* [http:// | * [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1] | ||
* [http:// | * [http://omim.org/entry/276900 USHER SYNDROME, TYPE IA; USH1A] | ||
* [http:// | * [http://omim.org/entry/118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1] | ||
* [http:// | * [http://omim.org/entry/602889 A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A] | ||
* [http:// | * [http://omim.org/entry/279000 YOUNG SYNDROME] | ||
* [http:// | * [http://omim.org/entry/277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD] | ||
* [http:// | * [http://omim.org/entry/603121 CYLICIN 1; CYCL1] | ||
* [http:// | * [http://omim.org/entry/114480 CANCER OF THE BREAST, FAMILIAL; BCS] | ||
* [http:// | * [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | ||
* [http:// | * [http://omim.org/entry/602692 GLIOMA PATHOGENESIS-RELATED PROTEIN] | ||
* [http:// | * [http://omim.org/entry/602974 AQUAPORIN 7; AQP7] | ||
* [http:// | * [http://omim.org/entry/102480 ACROSIN; ACR] | ||
* [http:// | * [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2] | ||
* [http:// | * [http://omim.org/entry/201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/187430 TESTIS-SPECIFIC PROTEIN 1; TPX1] | ||
* [http:// | * [http://omim.org/entry/191135 TUBULIN, GAMMA; TUBG] | ||
* [http:// | * [http://omim.org/entry/243060 INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA] | ||
* [http:// | * [http://omim.org/entry/229300 FRIEDREICH ATAXIA 1; FRDA] | ||
* [http:// | * [http://omim.org/entry/180200 RETINOBLASTOMA; RB1] | ||
* [http:// | * [http://omim.org/entry/185430 CLUSTERIN; CLU] | ||
* [http:// | * [http://omim.org/entry/176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A] | ||
* [http:// | * [http://omim.org/entry/174800 MCCUNE-ALBRIGHT SYNDROME; MAS] | ||
* [http:// | * [http://omim.org/entry/173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP] | ||
* [http:// | * [http://omim.org/entry/193450 VULVOVAGINITIS, ALLERGIC SEMINAL] | ||
* [http:// | * [http://omim.org/entry/172270 PHOSPHOGLYCERATE KINASE 2; PGK2] | ||
* [http:// | * [http://omim.org/entry/195002 ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B] | ||
* [http:// | * [http://omim.org/entry/123812 CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM] | ||
* [http:// | * [http://omim.org/entry/100800 ACHONDROPLASIA; ACH] | ||
* [http:// | * [http://omim.org/entry/312610 RETINITIS PIGMENTOSA 3; RP3] | ||
* [http:// | * [http://omim.org/entry/602574 TECTORIN, ALPHA; TECTA] | ||
* [http:// | * [http://omim.org/entry/228300 FERTILE EUNUCH] | ||
* [http:// | * [http://omim.org/entry/603495 SERINE/THREONINE PROTEIN KINASE 13; STK13] | ||
* [http:// | * [http://omim.org/entry/231090 GESTATIONAL TROPHOBLASTIC DISEASE] | ||
* [http:// | * [http://omim.org/entry/312600 RETINITIS PIGMENTOSA 2; RP2] | ||
* [http:// | * [http://omim.org/entry/242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES] | ||
* [http:// | * [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1] | ||
* [http:// | * [http://omim.org/entry/305700 GERMINAL CELL APLASIA] | ||
* [http:// | * [http://omim.org/entry/600499 ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG] | ||
* [http:// | * [http://omim.org/entry/602653 TECTORIN, BETA; TECTB] | ||
* [http:// | * [http://omim.org/entry/208900 ATAXIA-TELANGIECTASIA; AT] | ||
* [http:// | * [http://omim.org/entry/193400 VON WILLEBRAND DISEASE] | ||
* [http:// | * [http://omim.org/entry/190232 TRANSITION PROTEIN 2; TNP2] | ||
* [http:// | * [http://omim.org/entry/190231 TRANSITION PROTEIN 1; TNP1] | ||
* [http:// | * [http://omim.org/entry/276903 MYOSIN VIIA; MYO7A] | ||
* [http:// | * [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF] | ||
* [http:// | * [http://omim.org/entry/300154 EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF] | ||
* [http:// | * [http://omim.org/entry/306700 HEMOPHILIA A] | ||
* [http:// | * [http://omim.org/entry/306900 HEMOPHILIA B; HEMB] | ||
* [http:// | * [http://omim.org/entry/176410 PRECOCIOUS PUBERTY, MALE-LIMITED] | ||
* [http:// | * [http://omim.org/entry/176270 PRADER-WILLI SYNDROME; PWS] | ||
* [http:// | * [http://omim.org/entry/176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2] | ||
* [http:// | * [http://omim.org/entry/215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | ||
* [http:// | * [http://omim.org/entry/155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11] | ||
* [http:// | * [http://omim.org/entry/480000 SEX-DETERMINING REGION Y; SRY] | ||
* [http:// | * [http://omim.org/entry/215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION] | ||
* [http:// | * [http://omim.org/entry/300144 GLUTAMATE DEHYDROGENASE 2] | ||
* [http:// | * [http://omim.org/entry/600185 BREAST CANCER 2, EARLY-ONSET; BRCA2] | ||
* [http:// | * [http://omim.org/entry/600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3] | ||
* [http:// | * [http://omim.org/entry/600743 TRANSCRIPTION FACTOR AP4; TFAP4] | ||
* [http:// | * [http://omim.org/entry/600750 PENTRAXIN II, NEURONAL; NPTX2] | ||
* [http:// | * [http://omim.org/entry/152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR] | ||
* [http:// | * [http://omim.org/entry/147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2] | ||
* [http:// | * [http://omim.org/entry/142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A] | ||
* [http:// | * [http://omim.org/entry/142709 H1 HISTONE FAMILY, MEMBER 1; H1F1] | ||
* [http:// | * [http://omim.org/entry/142550 HEXOKINASE OF SPERMATOZOA] | ||
* [http:// | * [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/601517 ATAXIN 2; ATX2] | ||
* [http:// | * [http://omim.org/entry/140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2] | ||
* [http:// | * [http://omim.org/entry/601663 ESTROGEN RECEPTOR 2; ESR2] | ||
* [http:// | * [http://omim.org/entry/137010 F9 EMBRYONIC ANTIGEN; FEA] | ||
* [http:// | * [http://omim.org/entry/136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR] | ||
* [http:// | * [http://omim.org/entry/602073 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B] | ||
* [http:// | * [http://omim.org/entry/602372 ZONADHESIN; ZAN] | ||
* [http:// | * [http://omim.org/entry/227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA] | ||
* [http:// | * [http://omim.org/entry/600040 BCL2-ASSOCIATED X PROTEIN; BAX] | ||
* [http:// | * [http://omim.org/entry/131530 EPIDERMAL GROWTH FACTOR; EGF] | ||
* [http:// | * [http://omim.org/entry/130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41] | ||
* [http:// | * [http://omim.org/entry/125870 DIAPHORASE 2; DIA2] | ||
* [http:// | * [http://omim.org/entry/123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON] | ||
* [http:// | * [http://omim.org/entry/117139 CENTROMERIC PROTEIN A; CENPA] | ||
* [http:// | * [http://omim.org/entry/116896 CUT-LIKE, 1; CUTL1] | ||
* [http:// | * [http://omim.org/entry/114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC] | ||
* [http:// | * [http://omim.org/entry/103280 ADULT SKELETAL MUSCLE GENE] | ||
* [http:// | * [http://omim.org/entry/219700 CYSTIC FIBROSIS; CF] | ||
=== Cardiovascular === | === Cardiovascular === | ||
{{Template:Heart Links}} | |||
====Tetralogy of Fallot==== | ====Tetralogy of Fallot==== | ||
* [http:// | * [http://omim.org/entry/187500 TETRALOGY OF FALLOT] | ||
* [http:// | * [http://omim.org/entry/239711 HYPERTELORISM AND TETRALOGY OF FALLOT] | ||
* [http:// | * [http://omim.org/entry/187501 TETRALOGY OF FALLOT AND GLAUCOMA] | ||
* [http:// | * [http://omim.org/entry/601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION] | ||
* [http:// | * [http://omim.org/entry/188400 DIGEORGE SYNDROME; DGS] | ||
* [http:// | * [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/179613 RECOMBINANT CHROMOSOME 8 SYNDROME] | ||
* [http:// | * [http://omim.org/entry/217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM] | ||
* [http:// | * [http://omim.org/entry/163950 NOONAN SYNDROME 1; NS1] | ||
* [http:// | * [http://omim.org/entry/115470 CAT EYE SYNDROME; CES] | ||
* [http:// | * [http://omim.org/entry/134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA] | ||
* [http:// | * [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA] | ||
* [http:// | * [http://omim.org/entry/147920 KABUKI SYNDROME] | ||
* [http:// | * [http://omim.org/entry/107600 APLASIA CUTIS CONGENITA] | ||
* [http:// | * [http://omim.org/entry/250620 METHACRYLICACIDURIA] | ||
* [http:// | * [http://omim.org/entry/211750 C SYNDROME] | ||
* [http:// | * [http://omim.org/entry/154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1] | ||
* [http:// | * [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I] | ||
* [http:// | * [http://omim.org/entry/274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS] | ||
* [http:// | * [http://omim.org/entry/125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF] | ||
* [http:// | * [http://omim.org/entry/118450 ALAGILLE SYNDROME; AGS] | ||
* [http:// | * [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA] | ||
* [http:// | * [http://omim.org/entry/280000 ZUNICH NEUROECTODERMAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/309350 MELNICK-NEEDLES OSTEODYSPLASTY] | ||
* [http:// | * [http://omim.org/entry/600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE] | ||
* [http:// | * [http://omim.org/entry/600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD] | ||
* [http:// | * [http://omim.org/entry/600584 CARDIAC-SPECIFIC HOMEO BOX; CSX] | ||
* [http:// | * [http://omim.org/entry/227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/162660 NEUROTROPHIN 3; NTF3] | ||
* [http:// | * [http://omim.org/entry/600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS] | ||
* [http:// | * [http://omim.org/entry/216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA] | ||
* [http:// | * [http://omim.org/entry/601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/601920 JAGGED 1; JAG1] | ||
* [http:// | * [http://omim.org/entry/166780 OTOFACIOCERVICAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/603530 LIGHT FIXATION SEIZURE SYNDROME] | ||
====Atrial Septal Defect ==== | ====Atrial Septal Defect ==== | ||
* [http:// | * [http://omim.org/entry/600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD] | ||
* [http:// | * [http://omim.org/entry/108800 ATRIAL SEPTAL DEFECT; ASD] | ||
* [http:// | * [http://omim.org/entry/108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS] | ||
* [http:// | * [http://omim.org/entry/602482 AXENFELD-RIEGER ANOMALY WITH ATRIAL SEPTAL DEFECT AND SENSORINEURAL HEARING LOSS] | ||
* [http:// | * [http://omim.org/entry/113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II] | ||
* [http:// | * [http://omim.org/entry/178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES] | ||
* [http:// | * [http://omim.org/entry/601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES] | ||
* [http:// | * [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT] | ||
* [http:// | * [http://omim.org/entry/600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS] | ||
* [http:// | * [http://omim.org/entry/142900 HOLT-ORAM SYNDROME; HOS] | ||
* [http:// | * [http://omim.org/entry/115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A] | ||
* [http:// | * [http://omim.org/entry/212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA] | ||
* [http:// | * [http://omim.org/entry/600584 CARDIAC-SPECIFIC HOMEO BOX; CSX] | ||
* [http:// | * [http://omim.org/entry/268310 ROBINOW SYNDROME, RECESSIVE FORM] | ||
* [http:// | * [http://omim.org/entry/115080 CARDIAC CONDUCTION DEFECT] | ||
* [http:// | * [http://omim.org/entry/100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL] | ||
* [http:// | * [http://omim.org/entry/300166 OCULOFACIOCARDIODENTAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/121000 CONGENITAL HEART DISEASE] | ||
* [http:// | * [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS] | ||
* [http:// | * [http://omim.org/entry/147920 KABUKI SYNDROME] | ||
* [http:// | * [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA] | ||
* [http:// | * [http://omim.org/entry/192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1] | ||
* [http:// | * [http://omim.org/entry/600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE] | ||
* [http:// | * [http://omim.org/entry/140400 HEART BLOCK] | ||
* [http:// | * [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/255960 MYXOMA, INTRACARDIAC] | ||
* [http:// | * [http://omim.org/entry/270100 SITUS INVERSUS VISCERUM] | ||
* [http:// | * [http://omim.org/entry/263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1] | ||
* [http:// | * [http://omim.org/entry/200610 ACHONDROGENESIS, TYPE II; ACG2] | ||
* [http:// | * [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/192350 VATER ASSOCIATION] | ||
* [http:// | * [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE] | ||
* [http:// | * [http://omim.org/entry/224700 EBSTEIN ANOMALY] | ||
* [http:// | * [http://omim.org/entry/115150 CARDIOFACIOCUTANEOUS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/225500 ELLIS-VAN CREVELD SYNDROME; EVC] | ||
* [http:// | * [http://omim.org/entry/241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS] | ||
* [http:// | * [http://omim.org/entry/153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA] | ||
* [http:// | * [http://omim.org/entry/602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B] | ||
* [http:// | * [http://omim.org/entry/248950 MCDONOUGH SYNDROME] | ||
* [http:// | * [http://omim.org/entry/277200 VENTRICLE, HYPOPLASIA OF RIGHT] | ||
* [http:// | * [http://omim.org/entry/249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION] | ||
* [http:// | * [http://omim.org/entry/601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/277740 WHITE FORELOCK WITH MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION] | ||
* [http:// | * [http://omim.org/entry/268300 ROBERTS SYNDROME; RBS] | ||
* [http:// | * [http://omim.org/entry/311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT] | ||
* [http:// | * [http://omim.org/entry/601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS] | ||
* [http:// | * [http://omim.org/entry/601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL] DYSMORPHISM | ||
=== Musculoskeletal === | === Musculoskeletal === | ||
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====Muscular Dystrophy==== | ====Muscular Dystrophy==== | ||
* [http:// | * [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | ||
* [http:// | * [http://omim.org/entry/158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A] | ||
* [http:// | * [http://omim.org/entry/253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD] | ||
* [http:// | * [http://omim.org/entry/253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A] | ||
* [http:// | * [http://omim.org/entry/181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2] | ||
* [http:// | * [http://omim.org/entry/253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C] | ||
* [http:// | * [http://omim.org/entry/310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/600119 SARCOGLYCAN, ALPHA; SGCA] | ||
* [http:// | * [http://omim.org/entry/159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A] | ||
* [http:// | * [http://omim.org/entry/164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD] | ||
* [http:// | * [http://omim.org/entry/600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE] | ||
* [http:// | * [http://omim.org/entry/253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B] | ||
* [http:// | * [http://omim.org/entry/254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H] | ||
* [http:// | * [http://omim.org/entry/159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B] | ||
* [http:// | * [http://omim.org/entry/310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL] | ||
* [http:// | * [http://omim.org/entry/257950 MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B] | ||
* [http:// | * [http://omim.org/entry/156225 LAMININ, ALPHA-2; LAMA2] | ||
* [http:// | * [http://omim.org/entry/160900 DYSTROPHIA MYOTONICA; DMPK] | ||
* [http:// | * [http://omim.org/entry/600900 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E] | ||
* [http:// | * [http://omim.org/entry/236670 WALKER-WARBURG SYNDROME] | ||
* [http:// | * [http://omim.org/entry/254130 MIYOSHI MYOPATHY; MM] | ||
* [http:// | * [http://omim.org/entry/601253 CAVEOLIN 3; CAV3] | ||
* [http:// | * [http://omim.org/entry/226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES] | ||
* [http:// | * [http://omim.org/entry/601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F] | ||
* [http:// | * [http://omim.org/entry/603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D] | ||
* [http:// | * [http://omim.org/entry/600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL] | ||
* [http:// | * [http://omim.org/entry/254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION] | ||
* [http:// | * [http://omim.org/entry/159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES] | ||
* [http:// | * [http://omim.org/entry/254090 MUSCULAR DYSTROPHY, SCLEROATONIC] | ||
* [http:// | * [http://omim.org/entry/253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS] | ||
* [http:// | * [http://omim.org/entry/602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY] | ||
* [http:// | * [http://omim.org/entry/253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY] | ||
* [http:// | * [http://omim.org/entry/600506 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 4; LGMD4] | ||
* [http:// | * [http://omim.org/entry/277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA] | ||
* [http:// | * [http://omim.org/entry/601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS] | ||
* [http:// | * [http://omim.org/entry/601173 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/253850 MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE] | ||
* [http:// | * [http://omim.org/entry/603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY] | ||
* [http:// | * [http://omim.org/entry/310000 MUSCULAR DYSTROPHY, MABRY TYPE] | ||
* [http:// | * [http://omim.org/entry/601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G] | ||
* [http:// | * [http://omim.org/entry/254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM] | ||
* [http:// | * [http://omim.org/entry/602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F] | ||
* [http:// | * [http://omim.org/entry/602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE] | ||
* [http:// | * [http://omim.org/entry/601846 MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV] | ||
* [http:// | * [http://omim.org/entry/309660 MENTAL RETARDATION, SCAPULOPERONEAL MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY] | ||
* [http:// | * [http://omim.org/entry/309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE] | ||
* [http:// | * [http://omim.org/entry/158800 MUSCULAR DYSTROPHY, BARNES TYPE] | ||
* [http:// | * [http://omim.org/entry/309930 MUSCULAR DYSTROPHY, CARDIAC TYPE] | ||
* [http:// | * [http://omim.org/entry/601278 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 1; FRG1] | ||
* [http:// | * [http://omim.org/entry/204730 AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS] | ||
* [http:// | * [http://omim.org/entry/158600 MUSCULAR ATROPHY, JUVENILE SPINAL] | ||
* [http:// | * [http://omim.org/entry/253400 SPINAL MUSCULAR ATROPHY III; SMA3] | ||
* [http:// | * [http://omim.org/entry/603009 DYSFERLIN; DYSF] | ||
* [http:// | * [http://omim.org/entry/114240 CALPAIN, LARGE POLYPEPTIDE L3; CAPN3] | ||
* [http:// | * [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1] | ||
* [http:// | * [http://omim.org/entry/601411 SARCOGLYCAN, DELTA; SGCD] | ||
* [http:// | * [http://omim.org/entry/182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; FSHSMA] | ||
* [http:// | * [http://omim.org/entry/601282 PLECTIN 1; PLEC1] | ||
* [http:// | * [http://omim.org/entry/150330 LAMIN A/C; LMNA] | ||
* [http:// | * [http://omim.org/entry/128240 UTROPHIN; UTRN] | ||
* [http:// | * [http://omim.org/entry/307030 HYPERGLYCEROLEMIA] | ||
* [http:// | * [http://omim.org/entry/181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE] | ||
* [http:// | * [http://omim.org/entry/128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1] | ||
* [http:// | * [http://omim.org/entry/300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC] | ||
* [http:// | * [http://omim.org/entry/193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME] | ||
* [http:// | * [http://omim.org/entry/271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE] | ||
* [http:// | * [http://omim.org/entry/300600 ALBINISM, OCULAR, TYPE II; OA2] | ||
* [http:// | * [http://omim.org/entry/602668 DYSTROPHIA MYOTONICA 2; DM2] | ||
* [http:// | * [http://omim.org/entry/234200 HALLERVORDEN-SPATZ DISEASE] | ||
* [http:// | * [http://omim.org/entry/158580 MYOPATHY, DISTAL, WITH VOCAL CORD AND PHARYNGEAL WEAKNESS] | ||
* [http:// | * [http://omim.org/entry/602279 POLYADENYLATE-BINDING PROTEIN 2; PABP2] | ||
* [http:// | * [http://omim.org/entry/123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM] | ||
* [http:// | * [http://omim.org/entry/181400 AMYOTROPHY, SCAPULOPERONEAL] | ||
* [http:// | * [http://omim.org/entry/232300 GLYCOGEN STORAGE DISEASE II] | ||
* [http:// | * [http://omim.org/entry/160800 MYOTONIA CONGENITA, DOMINANT] | ||
* [http:// | * [http://omim.org/entry/253280 MUSCLE-EYE-BRAIN DISEASE] | ||
* [http:// | * [http://omim.org/entry/313700 ANDROGEN RECEPTOR; AR] | ||
* [http:// | * [http://omim.org/entry/601239 DYSTROBREVIN, ALPHA; DTNA] | ||
* [http:// | * [http://omim.org/entry/306400 GRANULOMATOUS DISEASE, CHRONIC; CGD] | ||
* [http:// | * [http://omim.org/entry/103220 ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1] | ||
* [http:// | * [http://omim.org/entry/120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG] | ||
* [http:// | * [http://omim.org/entry/120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB] | ||
* [http:// | * [http://omim.org/entry/312600 RETINITIS PIGMENTOSA 2; RP2] | ||
* [http:// | * [http://omim.org/entry/120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA] | ||
* [http:// | * [http://omim.org/entry/131300 ENGELMANN DISEASE] | ||
* [http:// | * [http://omim.org/entry/600536 INTEGRIN, ALPHA-7; ITGA7] | ||
* [http:// | * [http://omim.org/entry/160500 MYOPATHY, DISTAL 1; MPD1] | ||
* [http:// | * [http://omim.org/entry/300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4] | ||
* [http:// | * [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1] | ||
* [http:// | * [http://omim.org/entry/163731 NITRIC OXIDE SYNTHASE 1; NOS1] | ||
* [http:// | * [http://omim.org/entry/300017 FILAMIN A, ALPHA; FLNA] | ||
* [http:// | * [http://omim.org/entry/181430 SCAPULOPERONEAL MYOPATHY; SPM] | ||
* [http:// | * [http://omim.org/entry/601047 CAVEOLIN 1; CAV1] | ||
* [http:// | * [http://omim.org/entry/114750 CARBONIC ANHYDRASE III; CA3] | ||
* [http:// | * [http://omim.org/entry/312610 RETINITIS PIGMENTOSA 3; RP3] | ||
* [http:// | * [http://omim.org/entry/226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/136535 FORMIN; FMN] | ||
* [http:// | * [http://omim.org/entry/309900 MUCOPOLYSACCHARIDOSIS TYPE II] | ||
* [http:// | * [http://omim.org/entry/300023 RHO-GAP HEMATOPOIETIC PROTEIN C1] | ||
* [http:// | * [http://omim.org/entry/300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5] | ||
* [http:// | * [http://omim.org/entry/134797 FIBRILLIN 1; FBN1] | ||
* [http:// | * [http://omim.org/entry/600109 PROXIMAL MYOTONIC MYOPATHY; PROMM] | ||
* [http:// | * [http://omim.org/entry/314850 KELL BLOOD GROUP PRECURSOR; XK] | ||
* [http:// | * [http://omim.org/entry/602415 DYSTROBREVIN, BETA; DTNB] | ||
* [http:// | * [http://omim.org/entry/248800 MARINESCO-SJOGREN SYNDROME; MSS] | ||
* [http:// | * [http://omim.org/entry/151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2] | ||
* [http:// | * [http://omim.org/entry/310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1] | ||
* [http:// | * [http://omim.org/entry/305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1] | ||
* [http:// | * [http://omim.org/entry/300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1] | ||
* [http:// | * [http://omim.org/entry/125660 DESMIN; DES] | ||
* [http:// | * [http://omim.org/entry/208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN] | ||
* [http:// | * [http://omim.org/entry/214150 CEREBROOCULOFACIOSKELETAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/302045 CARDIOMYOPATHY, DILATED, X-LINKED; XLCM] | ||
* [http:// | * [http://omim.org/entry/160000 MYOGLOBIN; MB] | ||
* [http:// | * [http://omim.org/entry/232500 GLYCOGEN STORAGE DISEASE IV] | ||
* [http:// | * [http://omim.org/entry/179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1] | ||
* [http:// | * [http://omim.org/entry/190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1] | ||
* [http:// | * [http://omim.org/entry/306700 HEMOPHILIA A] | ||
* [http:// | * [http://omim.org/entry/160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS] | ||
* [http:// | * [http://omim.org/entry/257300 NONDISJUNCTION] | ||
* [http:// | * [http://omim.org/entry/188840 TITIN; TTN] | ||
* [http:// | * [http://omim.org/entry/276901 USHER SYNDROME, TYPE IIA; USH2A] | ||
* [http:// | * [http://omim.org/entry/255800 SCHWARTZ-JAMPEL SYNDROME; SJS] | ||
* [http:// | * [http://omim.org/entry/301500 ANGIOKERATOMA, DIFFUSE] | ||
* [http:// | * [http://omim.org/entry/314700 XG BLOOD GROUP SYSTEM; XG; PBDX] | ||
* [http:// | * [http://omim.org/entry/601484 SELENOPROTEIN P, PLASMA, 1; SEPP1] | ||
* [http:// | * [http://omim.org/entry/120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1] | ||
* [http:// | * [http://omim.org/entry/600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3] | ||
* [http:// | * [http://omim.org/entry/310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; XMEA; MEAX] | ||
* [http:// | * [http://omim.org/entry/311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC] | ||
* [http:// | * [http://omim.org/entry/600538 PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1] | ||
* [http:// | * [http://omim.org/entry/600118 WARBURG MICRO SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601048 CAVEOLIN 2; CAV2] | ||
* [http:// | * [http://omim.org/entry/106210 PAIRED BOX HOMEOTIC GENE 6; PAX6] | ||
* [http:// | * [http://omim.org/entry/117000 CENTRAL CORE DISEASE OF MUSCLE] | ||
* [http:// | * [http://omim.org/entry/123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE] | ||
* [http:// | * [http://omim.org/entry/306190 GONADOTROPIN DEFICIENCY; GTD] | ||
* [http:// | * [http://omim.org/entry/305400 FACIOGENITAL DYSPLASIA; FGD1] | ||
* [http:// | * [http://omim.org/entry/302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2] | ||
* [http:// | * [http://omim.org/entry/300500 ALBINISM, OCULAR, TYPE 1; OA1] | ||
* [http:// | * [http://omim.org/entry/300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/300037 GLYPICAN 3; GPC3] | ||
* [http:// | * [http://omim.org/entry/300100 ADRENOLEUKODYSTROPHY; ALD] | ||
* [http:// | * [http://omim.org/entry/300036 SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8] | ||
* [http:// | * [http://omim.org/entry/312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1] | ||
* [http:// | * [http://omim.org/entry/300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1] | ||
* [http:// | * [http://omim.org/entry/120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2] | ||
* [http:// | * [http://omim.org/entry/308100 ICHTHYOSIS, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/308840 L1 CELL ADHESION MOLECULE; L1CAM] | ||
* [http:// | * [http://omim.org/entry/314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR] | ||
* [http:// | * [http://omim.org/entry/277720 WHISTLING FACE SYNDROME, RECESSIVE FORM] | ||
* [http:// | * [http://omim.org/entry/309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1] | ||
* [http:// | * [http://omim.org/entry/275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION] | ||
* [http:// | * [http://omim.org/entry/309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL] | ||
* [http:// | * [http://omim.org/entry/600308 AQUAPORIN 4; AQP4] | ||
* [http:// | * [http://omim.org/entry/601143 DYNACTIN 1; DCTN1] | ||
* [http:// | * [http://omim.org/entry/601160 LISSENCEPHALY SYNDROME TYPE III] | ||
* [http:// | * [http://omim.org/entry/601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT] | ||
* [http:// | * [http://omim.org/entry/114250 CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE 1; CASQ1; CASQ] | ||
* [http:// | * [http://omim.org/entry/256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2] | ||
* [http:// | * [http://omim.org/entry/255600 MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL] | ||
* [http:// | * [http://omim.org/entry/109150 MACHADO-JOSEPH DISEASE; MJD] | ||
* [http:// | * [http://omim.org/entry/140300 HASHIMOTO STRUMA] | ||
* [http:// | * [http://omim.org/entry/151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1] | ||
* [http:// | * [http://omim.org/entry/600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP] | ||
* [http:// | * [http://omim.org/entry/601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK] | ||
* [http:// | * [http://omim.org/entry/232400 GLYCOGEN STORAGE DISEASE III] | ||
* [http:// | * [http://omim.org/entry/125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA] | ||
* [http:// | * [http://omim.org/entry/601556 ATAXIN 1; ATX1] | ||
* [http:// | * [http://omim.org/entry/224050 DYSEQUILIBRIUM SYNDROME; DES] | ||
* [http:// | * [http://omim.org/entry/220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1] | ||
* [http:// | * [http://omim.org/entry/212905 CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT] | ||
* [http:// | * [http://omim.org/entry/602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2] | ||
* [http:// | * [http://omim.org/entry/202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/180200 RETINOBLASTOMA; RB1] | ||
* [http:// | * [http://omim.org/entry/602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR] | ||
* [http:// | * [http://omim.org/entry/178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1] | ||
* [http:// | * [http://omim.org/entry/169400 PELGER-HUET ANOMALY] | ||
* [http:// | * [http://omim.org/entry/164400 SPINOCEREBELLAR ATAXIA 1; SCA1] | ||
* [http:// | * [http://omim.org/entry/161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1] | ||
* [http:// | * [http://omim.org/entry/603073 ZIC FAMILY MEMBER 2; ZIC2] | ||
* [http:// | * [http://omim.org/entry/100800 ACHONDROPLASIA; ACH] | ||
* [http:// | * [http://omim.org/entry/258450 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL] | ||
====Syndactyly==== | ====Syndactyly==== | ||
* [http:// | * [http://omim.org/entry/186100 SYNDACTYLY, TYPE III] | ||
* [http:// | * [http://omim.org/entry/186200 SYNDACTYLY, TYPE IV] | ||
* [http:// | * [http://omim.org/entry/186300 SYNDACTYLY, TYPE V] | ||
* [http:// | * [http://omim.org/entry/219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/185900 SYNDACTYLY, TYPE I] | ||
* [http:// | * [http://omim.org/entry/186000 SYNDACTYLY, TYPE II] | ||
* [http:// | * [http://omim.org/entry/225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/212780 CENANI SYNDACTYLISM] | ||
* [http:// | * [http://omim.org/entry/269500 SCLEROSTEOSIS] | ||
* [http:// | * [http://omim.org/entry/101400 SAETHRE-CHOTZEN SYNDROME; SCS] | ||
* [http:// | * [http://omim.org/entry/601446 SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/206920 ANOPHTHALMOS WITH LIMB ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/173800 POLAND SYNDROME] | ||
* [http:// | * [http://omim.org/entry/186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601005 LONG QT SYNDROME WITH SYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV] | ||
* [http:// | * [http://omim.org/entry/210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE] | ||
* [http:// | * [http://omim.org/entry/227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES] | ||
* [http:// | * [http://omim.org/entry/190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME] | ||
* [http:// | * [http://omim.org/entry/164200 OCULODENTODIGITAL DYSPLASIA; ODDD] | ||
* [http:// | * [http://omim.org/entry/101200 APERT SYNDROME] | ||
* [http:// | * [http://omim.org/entry/174700 POLYDACTYLY, PREAXIAL IV] | ||
* [http:// | * [http://omim.org/entry/176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2] | ||
* [http:// | * [http://omim.org/entry/188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I] | ||
* [http:// | * [http://omim.org/entry/312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF] | ||
* [http:// | * [http://omim.org/entry/601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE] | ||
* [http:// | * [http://omim.org/entry/175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS] | ||
* [http:// | * [http://omim.org/entry/146510 PALLISTER-HALL SYNDROME; PHS] | ||
* [http:// | * [http://omim.org/entry/263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE] | ||
* [http:// | * [http://omim.org/entry/225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4] | ||
* [http:// | * [http://omim.org/entry/107480 TOWNES-BROCKS SYNDROME; TBS] | ||
* [http:// | * [http://omim.org/entry/134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3] | ||
* [http:// | * [http://omim.org/entry/149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD] | ||
* [http:// | * [http://omim.org/entry/263450 POLYDACTYLY, POSTAXIAL] | ||
* [http:// | * [http://omim.org/entry/311200 OROFACIODIGITAL SYNDROME 1; OFD1] | ||
* [http:// | * [http://omim.org/entry/162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB] | ||
* [http:// | * [http://omim.org/entry/164280 OCULODIGITOESOPHAGODUODENAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/181270 SCALP-EAR-NIPPLE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/225280 EEM SYNDROME] | ||
* [http:// | * [http://omim.org/entry/235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME] | ||
* [http:// | * [http://omim.org/entry/135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS] | ||
* [http:// | * [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME] | ||
* [http:// | * [http://omim.org/entry/201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II] | ||
* [http:// | * [http://omim.org/entry/304120 CRANIOORODIGITAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A] | ||
* [http:// | * [http://omim.org/entry/113000 BRACHYDACTYLY, TYPE B1; BDB1] | ||
* [http:// | * [http://omim.org/entry/151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM] | ||
* [http:// | * [http://omim.org/entry/148820 KLEIN-WAARDENBURG SYNDROME] | ||
* [http:// | * [http://omim.org/entry/143095 HUMEROSPINAL DYSOSTOSIS] | ||
* [http:// | * [http://omim.org/entry/142900 HOLT-ORAM SYNDROME; HOS] | ||
* [http:// | * [http://omim.org/entry/176920 PROTEUS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP] | ||
* [http:// | * [http://omim.org/entry/164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS] | ||
* [http:// | * [http://omim.org/entry/124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL] | ||
* [http:// | * [http://omim.org/entry/185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET] | ||
* [http:// | * [http://omim.org/entry/181510 SCHIZOPHRENIA 1; SCZD1] | ||
* [http:// | * [http://omim.org/entry/122470 CORNELIA DE LANGE SYNDROME 1; CDL1] | ||
* [http:// | * [http://omim.org/entry/120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1] | ||
* [http:// | * [http://omim.org/entry/114150 CAMPTOBRACHYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS] | ||
* [http:// | * [http://omim.org/entry/188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT] | ||
* [http:// | * [http://omim.org/entry/188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/109050 AUROCEPHALOSYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM] | ||
* [http:// | * [http://omim.org/entry/102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF] | ||
* [http:// | * [http://omim.org/entry/102490 ACRORENOOCULAR SYNDROME] | ||
* [http:// | * [http://omim.org/entry/183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS] | ||
* [http:// | * [http://omim.org/entry/101600 PFEIFFER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/603596 POLYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME] | ||
* [http:// | * [http://omim.org/entry/269630 SECOND METATARSAL-METACARPAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2] | ||
* [http:// | * [http://omim.org/entry/602858 DELTA-7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7] | ||
* [http:// | * [http://omim.org/entry/269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME] | ||
* [http:// | * [http://omim.org/entry/602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION] | ||
* [http:// | * [http://omim.org/entry/217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL] | ||
* [http:// | * [http://omim.org/entry/600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS] | ||
* [http:// | * [http://omim.org/entry/256520 NEU-LAXOVA SYNDROME; NLS] | ||
* [http:// | * [http://omim.org/entry/251255 MICROCEPHALY WITH DIGITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA] | ||
* [http:// | * [http://omim.org/entry/601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY] | ||
* [http:// | * [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601224 DEFECT 11 CONTIGUOUS GENE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET] | ||
* [http:// | * [http://omim.org/entry/249000 MECKEL SYNDROME; MKS] | ||
* [http:// | * [http://omim.org/entry/313350 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/239710 HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME] | ||
* [http:// | * [http://omim.org/entry/304110 CRANIOFRONTONASAL SYNDROME; CFNS] | ||
* [http:// | * [http://omim.org/entry/241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY] | ||
* [http:// | * [http://omim.org/entry/243340 ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE] | ||
* [http:// | * [http://omim.org/entry/272350 SUMMITT SYNDROME] | ||
* [http:// | * [http://omim.org/entry/300049 HETEROTOPIA, FAMILIAL NODULAR] | ||
* [http:// | * [http://omim.org/entry/168500 PARIETAL FORAMINA, SYMMETRIC; PFM] | ||
* [http:// | * [http://omim.org/entry/239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME] | ||
* [http:// | * [http://omim.org/entry/258860 ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV] | ||
* [http:// | * [http://omim.org/entry/261800 PIERRE ROBIN SYNDROME] | ||
* [http:// | * [http://omim.org/entry/160980 CARNEY COMPLEX; CNC] | ||
* [http:// | * [http://omim.org/entry/235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA] | ||
* [http:// | * [http://omim.org/entry/252100 MOHR SYNDROME] | ||
* [http:// | * [http://omim.org/entry/217100 CONSTRICTING BANDS, CONGENITAL] | ||
* [http:// | * [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY] | ||
* [http:// | * [http://omim.org/entry/173900 POLYCYSTIC KIDNEYS] | ||
* [http:// | * [http://omim.org/entry/226700 EPIDERMOLYSIS BULLOSA LETALIS] | ||
* [http:// | * [http://omim.org/entry/226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1] | ||
* [http:// | * [http://omim.org/entry/174200 POLYDACTYLY, POSTAXIAL, TYPE A1] | ||
* [http:// | * [http://omim.org/entry/201181 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE] | ||
* [http:// | * [http://omim.org/entry/226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA] | ||
* [http:// | * [http://omim.org/entry/174400 POLYDACTYLY, PREAXIAL I] | ||
* [http:// | * [http://omim.org/entry/175690 POLYSYNDACTYLY, CROSSED] | ||
* [http:// | * [http://omim.org/entry/136000 FINGERPRINTS, ABSENCE OF] | ||
* [http:// | * [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS] | ||
* [http:// | * [http://omim.org/entry/300166 OCULOFACIOCARDIODENTAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX] | ||
* [http:// | * [http://omim.org/entry/180860 RUSSELL-SILVER SYNDROME; RSS] | ||
* [http:// | * [http://omim.org/entry/124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM] | ||
* [http:// | * [http://omim.org/entry/305400 FACIOGENITAL DYSPLASIA; FGD1] | ||
* [http:// | * [http://omim.org/entry/305450 FG SYNDROME; FGS1] | ||
* [http:// | * [http://omim.org/entry/123150 JACKSON-WEISS SYNDROME; JWS] | ||
* [http:// | * [http://omim.org/entry/309800 MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA] | ||
* [http:// | * [http://omim.org/entry/309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS] | ||
* [http:// | * [http://omim.org/entry/122920 CRANIOFRONTAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A] | ||
* [http:// | * [http://omim.org/entry/200500 ACHEIROPODY] | ||
* [http:// | * [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT] | ||
* [http:// | * [http://omim.org/entry/218090 CRANE-HEISE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/600151 BARDET-BIEDL SYNDROME, TYPE 3; BBS3] | ||
* [http:// | * [http://omim.org/entry/600374 BARDET-BIEDL SYNDROME, TYPE 4; BBS4] | ||
* [http:// | * [http://omim.org/entry/115470 CAT EYE SYNDROME; CES] | ||
* [http:// | * [http://omim.org/entry/600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE] | ||
* [http:// | * [http://omim.org/entry/107600 APLASIA CUTIS CONGENITA] | ||
* [http:// | * [http://omim.org/entry/218330 CRANIOECTODERMAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1] | ||
* [http:// | * [http://omim.org/entry/102650 ADACTYLIA, UNILATERAL] | ||
* [http:// | * [http://omim.org/entry/264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III] | ||
* [http:// | * [http://omim.org/entry/265000 PTERYGIUM SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH] | ||
* [http:// | * [http://omim.org/entry/211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1] | ||
* [http:// | * [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA] | ||
* [http:// | * [http://omim.org/entry/601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT] | ||
* [http:// | * [http://omim.org/entry/601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L] | ||
* [http:// | * [http://omim.org/entry/142989 HOMEO BOX D13; HOXD13] | ||
* [http:// | * [http://omim.org/entry/602071 BROAD TERMINAL PHALANGES, FAMILIAL] | ||
* [http:// | * [http://omim.org/entry/200990 ACROCALLOSAL SYNDROME; ACLS] | ||
* [http:// | * [http://omim.org/entry/136535 FORMIN; FMN] | ||
* [http:// | * [http://omim.org/entry/602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY] | ||
* [http:// | * [http://omim.org/entry/602570 JAGGED 2; JAG2] | ||
* [http:// | * [http://omim.org/entry/602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE] | ||
* [http:// | * [http://omim.org/entry/602849 MUENKE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV] | ||
* [http:// | * [http://omim.org/entry/100050 AARSKOG SYNDROME] | ||
====Scoliosis==== | ====Scoliosis==== | ||
* [http:// | * [http://omim.org/entry/181800 SCOLIOSIS, IDIOPATHIC] | ||
* [http:// | * [http://omim.org/entry/555000 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS] | ||
* [http:// | * [http://omim.org/entry/603438 RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/182210 SHPRINTZEN OMPHALOCELE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/272460 SYNSPONDYLISM, CONGENITAL] | ||
* [http:// | * [http://omim.org/entry/134797 FIBRILLIN 1; FBN1] | ||
* [http:// | * [http://omim.org/entry/121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA] | ||
* [http:// | * [http://omim.org/entry/229300 FRIEDREICH ATAXIA 1; FRDA] | ||
* [http:// | * [http://omim.org/entry/305620 FRONTOMETAPHYSEAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE] | ||
* [http:// | * [http://omim.org/entry/176250 POSTERIOR COLUMN ATAXIA] | ||
* [http:// | * [http://omim.org/entry/235000 HEMIHYPERTROPHY] | ||
* [http:// | * [http://omim.org/entry/600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB] | ||
* [http:// | * [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1] | ||
* [http:// | * [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS] | ||
* [http:// | * [http://omim.org/entry/113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME] | ||
* [http:// | * [http://omim.org/entry/271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL] | ||
* [http:// | * [http://omim.org/entry/222600 DIASTROPHIC DYSPLASIA; DTD] | ||
* [http:// | * [http://omim.org/entry/154700 MARFAN SYNDROME; MFS] | ||
* [http:// | * [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | ||
* [http:// | * [http://omim.org/entry/309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1] | ||
* [http:// | * [http://omim.org/entry/184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE] | ||
* [http:// | * [http://omim.org/entry/255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION] | ||
* [http:// | * [http://omim.org/entry/108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II] | ||
* [http:// | * [http://omim.org/entry/225400 EHLERS-DANLOS SYNDROME, TYPE VI] | ||
* [http:// | * [http://omim.org/entry/166200 OSTEOGENESIS IMPERFECTA, TYPE I] | ||
* [http:// | * [http://omim.org/entry/108450 ASYMMETRIC SHORT STATURE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/119600 CLEIDOCRANIAL DYSPLASIA; CCD] | ||
* [http:// | * [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1] | ||
* [http:// | * [http://omim.org/entry/147920 KABUKI SYNDROME] | ||
* [http:// | * [http://omim.org/entry/113500 BRACHYRACHIA] | ||
* [http:// | * [http://omim.org/entry/158350 COWDEN DISEASE; CD] | ||
* [http:// | * [http://omim.org/entry/108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC] | ||
* [http:// | * [http://omim.org/entry/104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM] | ||
* [http:// | * [http://omim.org/entry/162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS] | ||
* [http:// | * [http://omim.org/entry/162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP] | ||
* [http:// | * [http://omim.org/entry/157170 HOLOPROSENCEPHALY 2; HPE2] | ||
* [http:// | * [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS] | ||
* [http:// | * [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS] | ||
* [http:// | * [http://omim.org/entry/230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I] | ||
* [http:// | * [http://omim.org/entry/256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2] | ||
* [http:// | * [http://omim.org/entry/255995 NATIVE AMERICAN MYOPATHY] | ||
* [http:// | * [http://omim.org/entry/602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY] | ||
* [http:// | * [http://omim.org/entry/602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE] | ||
* [http:// | * [http://omim.org/entry/176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI] | ||
* [http:// | * [http://omim.org/entry/601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS] | ||
* [http:// | * [http://omim.org/entry/601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION] | ||
* [http:// | * [http://omim.org/entry/178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE] | ||
* [http:// | * [http://omim.org/entry/601472 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D] | ||
* [http:// | * [http://omim.org/entry/601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS] | ||
* [http:// | * [http://omim.org/entry/601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE] | ||
* [http:// | * [http://omim.org/entry/601344 SPINAL DYSPLASIA, ANHALT TYPE] | ||
* [http:// | * [http://omim.org/entry/600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/182290 SMITH-MAGENIS SYNDROME; SMS] | ||
* [http:// | * [http://omim.org/entry/183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS] | ||
* [http:// | * [http://omim.org/entry/600325 AMINOPTERIN-LIKE SYNDROME SINE AMINOPTERIN] | ||
* [http:// | * [http://omim.org/entry/311300 OTOPALATODIGITAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/186700 SYRINGOMYELIA] | ||
* [http:// | * [http://omim.org/entry/188800 TIBIAL TORSION, BILATERAL MEDIAL] | ||
* [http:// | * [http://omim.org/entry/193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME] | ||
* [http:// | * [http://omim.org/entry/309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD] | ||
* [http:// | * [http://omim.org/entry/313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS] | ||
* [http:// | * [http://omim.org/entry/600000 SPONDYLOCAMPTODACTYLY] | ||
* [http:// | * [http://omim.org/entry/208400 ASPARTYLGLUCOSAMINURIA] | ||
* [http:// | * [http://omim.org/entry/600119 SARCOGLYCAN, ALPHA; SGCA] | ||
* [http:// | * [http://omim.org/entry/211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY] | ||
* [http:// | * [http://omim.org/entry/219200 CUTIS LAXA WITH BONE DYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE] | ||
* [http:// | * [http://omim.org/entry/601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE] | ||
* [http:// | * [http://omim.org/entry/223900 DYSAUTONOMIA, FAMILIAL; DYS] | ||
* [http:// | * [http://omim.org/entry/224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS] | ||
* [http:// | * [http://omim.org/entry/309600 MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA] | ||
* [http:// | * [http://omim.org/entry/309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE] | ||
* [http:// | * [http://omim.org/entry/300004 CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY] | ||
* [http:// | * [http://omim.org/entry/268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/265000 PTERYGIUM SYNDROME] | ||
* [http:// | * [http://omim.org/entry/264180 PSEUDODIASTROPHIC DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/234250 HALL-RIGGS MENTAL RETARDATION SYNDROME] | ||
* [http:// | * [http://omim.org/entry/251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA] | ||
* [http:// | * [http://omim.org/entry/304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY] | ||
* [http:// | * [http://omim.org/entry/246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT] | ||
* [http:// | * [http://omim.org/entry/253500 MUSCULAR ATROPHY, PROGRESSIVE] | ||
* [http:// | * [http://omim.org/entry/250600 METATROPIC DWARFISM] | ||
* [http:// | * [http://omim.org/entry/301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM] | ||
* [http:// | * [http://omim.org/entry/300061 MENTAL RETARDATION, X-LINKED; DXS6673E] | ||
* [http:// | * [http://omim.org/entry/248800 MARINESCO-SJOGREN SYNDROME; MSS] | ||
* [http:// | * [http://omim.org/entry/249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME] | ||
* [http:// | * [http://omim.org/entry/147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS] | ||
* [http:// | * [http://omim.org/entry/250250 CARTILAGE-HAIR HYPOPLASIA; CHH] | ||
* [http:// | * [http://omim.org/entry/150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1] | ||
* [http:// | * [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/248700 MARDEN-WALKER SYNDROME; MWS] | ||
* [http:// | * [http://omim.org/entry/194050 WILLIAMS-BEUREN SYNDROME; WBS] | ||
* [http:// | * [http://omim.org/entry/208900 ATAXIA-TELANGIECTASIA; AT] | ||
* [http:// | * [http://omim.org/entry/254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE] | ||
* [http:// | * [http://omim.org/entry/256550 NEURAMINIDASE DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE] | ||
* [http:// | * [http://omim.org/entry/253220 MUCOPOLYSACCHARIDOSIS TYPE VII] | ||
* [http:// | * [http://omim.org/entry/259450 BRUCK SYNDROME] | ||
* [http:// | * [http://omim.org/entry/153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD] | ||
* [http:// | * [http://omim.org/entry/154750 MARFANOID HYPERMOBILITY SYNDROME] | ||
* [http:// | * [http://omim.org/entry/229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA] | ||
* [http:// | * [http://omim.org/entry/201200 ACROGERIA] | ||
* [http:// | * [http://omim.org/entry/271510 SPONASTRIME DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/136760 FRONTONASAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3] | ||
* [http:// | * [http://omim.org/entry/277300 VERTEBRAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/277590 WEAVER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/277990 WOLFF MENTAL RETARDATION SYNDROME] | ||
* [http:// | * [http://omim.org/entry/278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA] | ||
* [http:// | * [http://omim.org/entry/154850 MASTICATORY MUSCLES, HYPERTROPHY OF] | ||
* [http:// | * [http://omim.org/entry/203800 ALSTROM SYNDROME; ALMS1] | ||
* [http:// | * [http://omim.org/entry/300088 EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR] | ||
* [http:// | * [http://omim.org/entry/156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT] | ||
* [http:// | * [http://omim.org/entry/302380 CATEL-MANZKE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED] | ||
* [http:// | * [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX] | ||
* [http:// | * [http://omim.org/entry/259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN] | ||
* [http:// | * [http://omim.org/entry/305450 FG SYNDROME; FGS1] | ||
* [http:// | * [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF] | ||
* [http:// | * [http://omim.org/entry/131300 ENGELMANN DISEASE] | ||
* [http:// | * [http://omim.org/entry/308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS] | ||
* [http:// | * [http://omim.org/entry/120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1] | ||
* [http:// | * [http://omim.org/entry/227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA] | ||
* [http:// | * [http://omim.org/entry/156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE] | ||
* [http:// | * [http://omim.org/entry/255200 MYOPATHY, CENTRONUCLEAR] | ||
* [http:// | * [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2] | ||
* [http:// | * [http://omim.org/entry/159550 MYELOCEREBELLAR DISORDER] | ||
* [http:// | * [http://omim.org/entry/180500 RIEGER SYNDROME, TYPE 1; RIEG1] | ||
* [http:// | * [http://omim.org/entry/145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1] | ||
* [http:// | * [http://omim.org/entry/118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT] | ||
* [http:// | * [http://omim.org/entry/184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA] | ||
* [http:// | * [http://omim.org/entry/173900 POLYCYSTIC KIDNEYS] | ||
* [http:// | * [http://omim.org/entry/600225 GTP CYCLOHYDROLASE I; GCH1] | ||
* [http:// | * [http://omim.org/entry/109740 BIFID NOSE] | ||
* [http:// | * [http://omim.org/entry/183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE] | ||
* [http:// | * [http://omim.org/entry/166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4] | ||
* [http:// | * [http://omim.org/entry/166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH] | ||
* [http:// | * [http://omim.org/entry/180870 RUVALCABA SYNDROME] | ||
* [http:// | * [http://omim.org/entry/180700 ROBINOW SYNDROME] | ||
* [http:// | * [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/177150 PSEUDOACHONDROPLASTIC DYSPLASIA I] | ||
* [http:// | * [http://omim.org/entry/255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA] | ||
* [http:// | * [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/168400 PARASTREMMATIC DWARFISM] | ||
* [http:// | * [http://omim.org/entry/602091 LATENT TRANSFORMING GROWTH FACTOR-BETA BINDING PROTEIN 2; LTBP2] | ||
* [http:// | * [http://omim.org/entry/602419 EARLY GROWTH RESPONSE 3; EGR3] | ||
* [http:// | * [http://omim.org/entry/602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC] | ||
* [http:// | * [http://omim.org/entry/176270 PRADER-WILLI SYNDROME; PWS] | ||
* [http:// | * [http://omim.org/entry/170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE] | ||
* [http:// | * [http://omim.org/entry/602783 PARAPLEGIN] | ||
* [http:// | * [http://omim.org/entry/108140 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES] | ||
* [http:// | * [http://omim.org/entry/100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1] | ||
* [http:// | * [http://omim.org/entry/603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS] | ||
====Congenital Dislocation of the Hip==== | ====Congenital Dislocation of the Hip==== | ||
* [http:// | * [http://omim.org/entry/142700 HIP, DISLOCATION OF, CONGENITAL] | ||
* [http:// | * [http://omim.org/entry/601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM] | ||
* [http:// | * [http://omim.org/entry/120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2] | ||
* [http:// | * [http://omim.org/entry/310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | ||
* [http:// | * [http://omim.org/entry/219200 CUTIS LAXA WITH BONE DYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/252500 MUCOLIPIDOSIS II; ML2; ML II] | ||
* [http:// | * [http://omim.org/entry/177170 PSEUDOACHONDROPLASTIC DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA] | ||
* [http:// | * [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1] | ||
* [http:// | * [http://omim.org/entry/149400 KOK DISEASE] | ||
* [http:// | * [http://omim.org/entry/255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION] | ||
* [http:// | * [http://omim.org/entry/269880 SHORT SYNDROME] | ||
* [http:// | * [http://omim.org/entry/219100 CUTIS LAXA] | ||
* [http:// | * [http://omim.org/entry/184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA] | ||
* [http:// | * [http://omim.org/entry/153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD] | ||
* [http:// | * [http://omim.org/entry/106300 ANKYLOSING SPONDYLITIS; AS] | ||
* [http:// | * [http://omim.org/entry/100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM] | ||
* [http:// | * [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS] | ||
* [http:// | * [http://omim.org/entry/130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT] | ||
* [http:// | * [http://omim.org/entry/600536 INTEGRIN, ALPHA-7; ITGA7] | ||
* [http:// | * [http://omim.org/entry/147900 JOINT LAXITY, FAMILIAL] | ||
* [http:// | * [http://omim.org/entry/231070 GERODERMA OSTEODYSPLASTICA; GO] | ||
* [http:// | * [http://omim.org/entry/216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA] | ||
* [http:// | * [http://omim.org/entry/271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL] | ||
* [http:// | * [http://omim.org/entry/251450 MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION] | ||
* [http:// | * [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY] | ||
* [http:// | * [http://omim.org/entry/254090 MUSCULAR DYSTROPHY, SCLEROATONIC] | ||
* [http:// | * [http://omim.org/entry/210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY] | ||
* [http:// | * [http://omim.org/entry/182230 SEPTOOPTIC DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/150600 LEGG-CALVE-PERTHES DISEASE] | ||
* [http:// | * [http://omim.org/entry/108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II] | ||
* [http:// | * [http://omim.org/entry/108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1] | ||
* [http:// | * [http://omim.org/entry/107000 ANONYCHIA-ONYCHODYSTROPHY] | ||
* [http:// | * [http://omim.org/entry/603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS] | ||
* [http:// | * [http://omim.org/entry/260660 PELVISCAPULAR DYSPLASIA] | ||
Line 845: | Line 867: | ||
====Cleft Lip==== | ====Cleft Lip==== | ||
* [http:// | * [http://omim.org/entry/119530 OROFACIAL CLEFT 1; OFC1] | ||
* [http:// | * [http://omim.org/entry/225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/600625 CLEFT LIP, CONGENITAL HEALED] | ||
* [http:// | * [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE] | ||
* [http:// | * [http://omim.org/entry/119300 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP] | ||
* [http:// | * [http://omim.org/entry/119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE] | ||
* [http:// | * [http://omim.org/entry/129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1] | ||
* [http:// | * [http://omim.org/entry/268300 ROBERTS SYNDROME; RBS] | ||
* [http:// | * [http://omim.org/entry/155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA] | ||
* [http:// | * [http://omim.org/entry/106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE] | ||
* [http:// | * [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE] | ||
* [http:// | * [http://omim.org/entry/174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP] | ||
* [http:// | * [http://omim.org/entry/120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION] | ||
* [http:// | * [http://omim.org/entry/277170 VARADI-PAPP SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE] | ||
* [http:// | * [http://omim.org/entry/216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY] | ||
* [http:// | * [http://omim.org/entry/600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE] | ||
* [http:// | * [http://omim.org/entry/600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY] | ||
* [http:// | * [http://omim.org/entry/244300 KAPUR-TORIELLO SYNDROME] | ||
* [http:// | * [http://omim.org/entry/242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM] | ||
* [http:// | * [http://omim.org/entry/602077 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2] | ||
* [http:// | * [http://omim.org/entry/179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE] | ||
* [http:// | * [http://omim.org/entry/218090 CRANE-HEISE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING] | ||
* [http:// | * [http://omim.org/entry/119540 CLEFT PALATE; CP] | ||
* [http:// | * [http://omim.org/entry/106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE] | ||
* [http:// | * [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX] | ||
* [http:// | * [http://omim.org/entry/602966 OROFACIAL CLEFT 2; OFC2] | ||
* [http:// | * [http://omim.org/entry/600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY] | ||
* [http:// | * [http://omim.org/entry/157170 HOLOPROSENCEPHALY 2; HPE2] | ||
* [http:// | * [http://omim.org/entry/600757 OROFACIAL CLEFT 3; OFC3] | ||
* [http:// | * [http://omim.org/entry/129830 ECTRODACTYLY-CLEFT PALATE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/231060 GENITOPALATOCARDIAC SYNDROME] | ||
* [http:// | * [http://omim.org/entry/260150 PALANT CLEFT PALATE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/183400 SPLIT LOWER LIP] | ||
* [http:// | * [http://omim.org/entry/145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS] | ||
* [http:// | * [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS] | ||
* [http:// | * [http://omim.org/entry/236110 HOLZGREVE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4] | ||
* [http:// | * [http://omim.org/entry/164180 OCULOCEREBROCUTANEOUS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/311200 OROFACIODIGITAL SYNDROME 1; OFD1] | ||
* [http:// | * [http://omim.org/entry/236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1] | ||
* [http:// | * [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS] | ||
* [http:// | * [http://omim.org/entry/304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY] | ||
* [http:// | * [http://omim.org/entry/193500 WAARDENBURG SYNDROME, TYPE I; WS1] | ||
* [http:// | * [http://omim.org/entry/269860 SHORT RIB SYNDROME, BEEMER TYPE] | ||
* [http:// | * [http://omim.org/entry/236670 WALKER-WARBURG SYNDROME] | ||
* [http:// | * [http://omim.org/entry/214800 CHOANAL ATRESIA, POSTERIOR; PCA] | ||
* [http:// | * [http://omim.org/entry/311450 PALLISTER W SYNDROME] | ||
* [http:// | * [http://omim.org/entry/600776 ANOPHTHALMIA-PLUS SYNDROME] | ||
* [http:// | * [http://omim.org/entry/134780 FEMORAL-FACIAL SYNDROME; FFS] | ||
* [http:// | * [http://omim.org/entry/228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY] | ||
* [http:// | * [http://omim.org/entry/115470 CAT EYE SYNDROME; CES] | ||
* [http:// | * [http://omim.org/entry/601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS] | ||
* [http:// | * [http://omim.org/entry/268850 SAO PAULO MCA/MR SYNDROME] | ||
* [http:// | * [http://omim.org/entry/601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP] | ||
* [http:// | * [http://omim.org/entry/601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II] | ||
* [http:// | * [http://omim.org/entry/108300 STICKLER SYNDROME, TYPE I; STL1] | ||
* [http:// | * [http://omim.org/entry/217100 CONSTRICTING BANDS, CONGENITAL] | ||
* [http:// | * [http://omim.org/entry/184705 STEINFELD SYNDROME] | ||
* [http:// | * [http://omim.org/entry/300000 OPITZ SYNDROME] | ||
* [http:// | * [http://omim.org/entry/188400 DIGEORGE SYNDROME; DGS] | ||
* [http:// | * [http://omim.org/entry/220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT] | ||
* [http:// | * [http://omim.org/entry/223200 DISORGANIZATION, MOUSE, HOMOLOG OF] | ||
* [http:// | * [http://omim.org/entry/161200 NAIL-PATELLA SYNDROME; NPS] | ||
* [http:// | * [http://omim.org/entry/261540 PETERS ANOMALY WITH SHORT-LIMB DWARFISM] | ||
* [http:// | * [http://omim.org/entry/244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC] | ||
* [http:// | * [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CR] | ||
====Cleft Palate==== | ====Cleft Palate==== | ||
* [http:// | * [http://omim.org/entry/119530 OROFACIAL CLEFT 1; OFC1] | ||
* [http:// | * [http://omim.org/entry/225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED] | ||
* [http:// | * [http://omim.org/entry/119540 CLEFT PALATE, ISOLATED; CPI] | ||
* [http:// | * [http://omim.org/entry/600625 OROFACIAL CLEFT 11; OFC11] | ||
* [http:// | * [http://omim.org/entry/129400 RAPP-HODGKIN SYNDROME; RHS] | ||
* [http:// | * [http://omim.org/entry/164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS] | ||
* [http:// | * [http://omim.org/entry/303400 CLEFT PALATE, X-LINKED; CPX] | ||
* [http:// | * [http://omim.org/entry/608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6] | ||
* [http:// | * [http://omim.org/entry/119580 BLEPHAROCHEILODONTIC SYNDROME] | ||
* [http:// | * [http://omim.org/entry/602966 OROFACIAL CLEFT 2; OFC2] | ||
* [http:// | * [http://omim.org/entry/608874 OROFACIAL CLEFT 5; OFC5] | ||
* [http:// | * [http://omim.org/entry/601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 OROFACIAL CLEFT 10, INCLUDED; OFC10, INCLUDED] | ||
* [http:// | * [http://omim.org/entry/241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE] | ||
* [http:// | * [http://omim.org/entry/258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL] | ||
* [http:// | * [http://omim.org/entry/600757 OROFACIAL CLEFT 3; OFC3] | ||
* [http:// | * [http://omim.org/entry/612858 OROFACIAL CLEFT 12; OFC12] | ||
* [http:// | * [http://omim.org/entry/129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE] | ||
* [http:// | * [http://omim.org/entry/608371 OROFACIAL CLEFT 4] | ||
* [http:// | * [http://omim.org/entry/610361 OROFACIAL CLEFT 9] | ||
* [http:// | * [http://omim.org/entry/201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1] | ||
====Pierre Robin Syndrome==== | ====Pierre Robin Syndrome==== | ||
* [http:// | * [http://omim.org/entry/261800 PIERRE ROBIN SYNDROME] | ||
* [http:// | * [http://omim.org/entry/172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY] | ||
* [http:// | * [http://omim.org/entry/311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT] | ||
* [http:// | * [http://omim.org/entry/302380 CATEL-MANZKE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS] | ||
* [http:// | * [http://omim.org/entry/108300 STICKLER SYNDROME, TYPE I; STL1] | ||
* [http:// | * [http://omim.org/entry/254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE] | ||
* [http:// | * [http://omim.org/entry/217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE] | ||
* [http:// | * [http://omim.org/entry/143200 HYALOIDEORETINAL DEGENERATION OF WAGNER] | ||
* [http:// | * [http://omim.org/entry/192430 VELOCARDIOFACIAL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE] | ||
* [http:// | * [http://omim.org/entry/602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/154780 MARSHALL SYNDROME] | ||
* [http:// | * [http://omim.org/entry/117650 CEREBROCOSTOMANDIBULAR SYNDROME] | ||
* [http:// | * [http://omim.org/entry/184840 STICKLER SYNDROME, TYPE II; STL2] | ||
* [http:// | * [http://omim.org/entry/120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2] | ||
* [http:// | * [http://omim.org/entry/601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA] | ||
* [http:// | * [http://omim.org/entry/120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1] | ||
* [http:// | * [http://omim.org/entry/141900 HEMOGLOBIN--BETA LOCUS; HBB] | ||
* [http:// | * [http://omim.org/entry/128600 EAR MALFORMATION] | ||
* [http:// | * [http://omim.org/entry/166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS] | ||
* [http:// | * [http://omim.org/entry/225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM] | ||
* [http:// | * [http://omim.org/entry/131240 ENDOTHELIN 1; EDN1] | ||
=== Urogenital === | === Urogenital === | ||
====Kidney==== | ====Kidney==== | ||
* [http:// | * [http://omim.org/entry/100100 Prune Belly Syndrome] | ||
* [http:// | * [http://omim.org/entry/143400 Multicystic Renal Dysplasia] | ||
* [http:// | * [http://omim.org/entry/173900 Polycystic Kidneys] | ||
* [http:// | * [http://omim.org/entry/191830 Urogenital Adysplasia] | ||
* [http:// | * [http://omim.org/entry/194070 Wilms Tumor 1] | ||
* [http:// | * [http://omim.org/entry/264140 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness] | ||
* [http:// | * [http://omim.org/entry/600057 Exstrophy of Bladder] | ||
====Gonad==== | ====Gonad==== | ||
* [http:// | * [http://omim.org/entry/154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2] | ||
* [http:// | * [http://omim.org/entry/219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL] | ||
* [http:// | * [http://omim.org/entry/278850 XX MALE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY] | ||
* [http:// | * [http://omim.org/entry/424500 GONADOBLASTOMA; GBY] | ||
* [http:// | * [http://omim.org/entry/603737 OVARIAN GERM CELL CANCER] | ||
* [http:// | * [http://omim.org/entry/143150 H-Y ANTIGEN RECEPTOR] | ||
* [http:// | * [http://omim.org/entry/480000 SEX-DETERMINING REGION Y; SRY] | ||
* [http:// | * [http://omim.org/entry/601486 DELETED IN AZOOSPERMIA-LIKE; DAZL] | ||
* [http:// | * [http://omim.org/entry/183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA] | ||
* [http:// | * [http://omim.org/entry/194070 WILMS TUMOR 1; WT1] | ||
* [http:// | * [http://omim.org/entry/136680 FRASIER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/142910 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A REDUCTASE; HMGCR] | ||
* [http:// | * [http://omim.org/entry/136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR] | ||
* [http:// | * [http://omim.org/entry/194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM] | ||
* [http:// | * [http://omim.org/entry/600957 ANTI-MULLERIAN HORMONE; AMH] | ||
* [http:// | * [http://omim.org/entry/202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY] | ||
===Gastrointestinal Tract=== | ===Gastrointestinal Tract=== | ||
Line 1,002: | Line 1,024: | ||
====Hirschsprung Disease==== | ====Hirschsprung Disease==== | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/142623 HIRSCHSPRUNG DISEASE] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/277580 WAARDENBURG-SHAH SYNDROME] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF] | ||
* [http:// | * [http://omim.org/entry/600156 HIRSCHSPRUNG DISEASE 3] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/600155 HIRSCHSPRUNG DISEASE 2; HSCR2] | ||
* [http:// | * [http://omim.org/entry/235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA] | ||
* [http:// | * [http://omim.org/entry/235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES] | ||
* [http:// | * [http://omim.org/entry/235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS] | ||
* [http:// | * [http://omim.org/entry/306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY] | ||
* [http:// | * [http://omim.org/entry/235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT] | ||
* [http:// | * [http://omim.org/entry/235735 HIRSCHSPRUNG DISEASE WITH BILATERAL BICOLORED IRIDES] | ||
* [http:// | * [http://omim.org/entry/164761 RET PROTOONCOGENE; RET] | ||
* [http:// | * [http://omim.org/entry/131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB] | ||
* [http:// | * [http://omim.org/entry/131242 ENDOTHELIN 3; EDN3] | ||
* [http:// | * [http://omim.org/entry/600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF] | ||
* [http:// | * [http://omim.org/entry/602229 SRY-BOX 10; SOX10] | ||
* [http:// | * [http://omim.org/entry/193500 WAARDENBURG SYNDROME, TYPE I; WS1] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A] | ||
* [http:// | * [http://omim.org/entry/602018 NEURTURIN; NRTN] | ||
* [http:// | * [http://omim.org/entry/600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1] | ||
* [http:// | * [http://omim.org/entry/308840 L1 CELL ADHESION MOLECULE; L1CAM] | ||
* [http:// | * [http://omim.org/entry/600065 INTEGRIN, BETA-2; ITGB2] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1] | ||
* [http:// | * [http://omim.org/entry/300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/172800 PIEBALD TRAIT; PBT] | ||
* [http:// | * [http://omim.org/entry/209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/115470 CAT EYE SYNDROME; CES] | ||
* [http:// | * [http://omim.org/entry/250250 CARTILAGE-HAIR HYPOPLASIA; CHH] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/190685 TRISOMY 21] | ||
* [http:// | * [http://omim.org/entry/255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA] | ||
* [http:// | * [http://omim.org/entry/259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA] | ||
* [http:// | * [http://omim.org/entry/236700 MCKUSICK-KAUFMAN SYNDROME; MKKS] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I] | ||
* [http:// | * [http://omim.org/entry/304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF] | ||
* [http:// | * [http://omim.org/entry/601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1] | ||
* [http:// | * [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES] | ||
* [http:// | * [http://omim.org/entry/202550 AGANGLIONOSIS, TOTAL INTESTINAL] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/171300 PHEOCHROMOCYTOMA] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS] | ||
* [http:// | * [http://omim.org/entry/156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF] | ||
* [http:// | * [http://omim.org/entry/154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1] | ||
* [http:// | * [http://omim.org/entry/601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B] | ||
* [http:// | * [http://omim.org/entry/223200 DISORGANIZATION, MOUSE, HOMOLOG OF] | ||
* [http:// | * [http://omim.org/entry/ [http://omim.org/entry/148820 KLEIN-WAARDENBURG SYNDROME] | ||
* [http:// | * [http://omim.org/entry/126800 DUANE SYNDROME] | ||
* [http:// | * [http://omim.org/entry/602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM] | ||
===Coelomic Cavity=== | ===Coelomic Cavity=== | ||
====Diaphragmatic Hernia==== | ====Diaphragmatic Hernia==== | ||
* [http:// | * [http://omim.org/entry/142340 HERNIA, DIAPHRAGMATIC] | ||
* [http:// | * [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS] | ||
* [http:// | * [http://omim.org/entry/306950 HERNIA, ANTERIOR DIAPHRAGMATIC] | ||
* [http:// | * [http://omim.org/entry/222448 DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS] | ||
* [http:// | * [http://omim.org/entry/226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA] | ||
* [http:// | * [http://omim.org/entry/222400 DIAPHRAGM, UNILATERAL AGENESIS OF] | ||
* [http:// | * [http://omim.org/entry/223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT] | ||
* [http:// | * [http://omim.org/entry/122470 CORNELIA DE LANGE SYNDROME 1; CDL1] | ||
* [http:// | * [http://omim.org/entry/312870 SIMPSON DYSMORPHIA SYNDROME; SDYS] | ||
* [http:// | * [http://omim.org/entry/194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM] | ||
* [http:// | * [http://omim.org/entry/313850 THORACOABDOMINAL SYNDROME; THAS] | ||
* [http:// | * [http://omim.org/entry/130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1] | ||
* [http:// | * [http://omim.org/entry/110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES] | ||
* [http:// | * [http://omim.org/entry/267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM] | ||
* [http:// | * [http://omim.org/entry/169400 PELGER-HUET ANOMALY] | ||
* [http:// | * [http://omim.org/entry/206500 ANENCEPHALY] | ||
* [http:// | * [http://omim.org/entry/194190 WOLF-HIRSCHHORN SYNDROME; WHS] | ||
* [http:// | * [http://omim.org/entry/179820 RENIN; REN] | ||
* [http:// | * [http://omim.org/entry/309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS] | ||
* [http:// | * [http://omim.org/entry/134770 FERRITIN HEAVY CHAIN 1; FTH1] | ||
* [http:// | * [http://omim.org/entry/304110 CRANIOFRONTONASAL SYNDROME; CFNS] | ||
* [http:// | * [http://omim.org/entry/305600 FOCAL DERMAL HYPOPLASIA; DHOF] | ||
* [http:// | * [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1] | ||
* [http:// | * [http://omim.org/entry/219100 CUTIS LAXA] | ||
* [http:// | * [http://omim.org/entry/202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS] | ||
* [http:// | * [http://omim.org/entry/215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1] | ||
* [http:// | * [http://omim.org/entry/265430 PULMONARY HYPOPLASIA] | ||
* [http:// | * [http://omim.org/entry/276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY] | ||
* [http:// | * [http://omim.org/entry/245600 LARSEN SYNDROME, RECESSIVE] | ||
* [http:// | * [http://omim.org/entry/211750 C SYNDROME] | ||
* [http:// | * [http://omim.org/entry/122920 CRANIOFRONTAL DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE] | ||
* [http:// | * [http://omim.org/entry/601803 PALLISTER-KILLIAN SYNDROME; PKS] | ||
===Respiratory=== | ===Respiratory=== | ||
[[Respiratory System - Abnormalities]] | |||
* [http://omim.org/entry/142340 HERNIA, DIAPHRAGMATIC] | |||
* [http://omim.org/entry/164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1] | |||
* [http://omim.org/entry/182280 SMALL CELL CANCER OF THE LUNG; SCCL] | |||
* [http:// | * [http://omim.org/entry/211980 CANCER OF LUNG] | ||
* [http:// | * [http://omim.org/entry/600597 PHOSPHOLIPASE C, EPSILON; PLCE] | ||
* [http:// | * [http://omim.org/entry/219600 CYSTIC DISEASE OF LUNG] | ||
* [http:// | * [http://omim.org/entry/603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11] | ||
* [http:// | * [http://omim.org/entry/601612 LUNG AGENESIS] | ||
* [http:// | * [http://omim.org/entry/142409 HEPATOCYTE GROWTH FACTOR; HGF] | ||
* [http:// | * [http://omim.org/entry/274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA] | ||
* [http:// | * [http://omim.org/entry/602016 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR] | ||
* [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE] | |||
* [http://omim.org/entry/CONGENITAL ANOMALY SYNDROME] | |||
* [http://omim.org/entry/191170 TUMOR PROTEIN p53; TP53] | |||
* [http:// | * [http://omim.org/entry/107400 PROTEASE INHIBITOR 1; PI] | ||
* [http:// | * [http://omim.org/entry/190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2] | ||
* [http:// | * [http://omim.org/entry/602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR] | ||
* [http:// | * [http://omim.org/entry/219700 CYSTIC FIBROSIS; CF] | ||
* [http:// | * [http://omim.org/entry/124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D] | ||
* [http:// | * [http://omim.org/entry/108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1] | ||
* [http:// | * [http://omim.org/entry/151623 LI-FRAUMENI SYNDROME; LFS] | ||
* [http:// | * [http://omim.org/entry/190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS] | ||
* [http://omim.org/entry/180200 RETINOBLASTOMA; RB1] | |||
* [http://omim.org/entry/190160 THYROID HORMONE RECEPTOR, BETA; THRB] | |||
* [http://omim.org/entry/603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B] | |||
* [http://omim.org/entry/142460 SYNDECAN 2; SDC2] | |||
* [http:// | * [http://omim.org/entry/131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1] | ||
* [http://omim.org/entry/603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4] | |||
* [http://omim.org/entry/265120 PULMONARY ALVEOLAR PROTEINOSIS] | |||
* [http://omim.org/entry/191325 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L] | |||
* [http:// | * [http://omim.org/entry/102645 ACYLPEPTIDE HYDROLASE; APH] | ||
* [http:// | * [http://omim.org/entry/601089 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5] | ||
* [http:// | * [http://omim.org/entry/244400 KARTAGENER SYNDROME] | ||
* [http:// | * [http://omim.org/entry/176944 PROTEIN TYROSINE KINASE TKF] | ||
* [http:// | * [http://omim.org/entry/108345 N-ACETYLTRANSFERASE 1; NAT1] | ||
* [http:// | * [http://omim.org/entry/602056 DEFENSIN, BETA-1; DEFB1] | ||
* [http:// | * [http://omim.org/entry/600725 SONIC HEDGEHOG, DROSOPHILA, HOMOLOG OF; SHH] | ||
* [http:// | * [http://omim.org/entry/229850 FRYNS SYNDROME; FRNS] | ||
* [http://omim.org/entry/191092 TUBEROUS SCLEROSIS 2; TSC2] | |||
* [http://omim.org/entry/106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1] | |||
* [http://omim.org/entry/602115 FIBROBLAST GROWTH FACTOR 10; FGF10] | |||
* [http://omim.org/entry/107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT] | |||
* [http://omim.org/entry/135000 FIBROCYSTIC PULMONARY DYSPLASIA] | |||
* [http://omim.org/entry/137260 GASTRIN-RELEASING POLYPEPTIDE; GRP] | |||
* [http://omim.org/entry/ 243700 JOB SYNDROME] | |||
* [http://omim.org/entry/263000 PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP] | |||
* [http://omim.org/entry/603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B] | |||
* [http://omim.org/entry/165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI] | |||
* [http://omim.org/entry/182452 SOMATOSTATIN RECEPTOR 2; SSTR2] | |||
* [http://omim.org/entry/114760 CARBONIC ANHYDRASE IV; CA4] | |||
* [http://omim.org/entry/116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A] | |||
* [http://omim.org/entry/103950 ALPHA-2-MACROGLOBULIN; A2M] | |||
* [http://omim.org/entry/104620 AMINOACYLASE 1; ACY1] | |||
* [http://omim.org/entry/601281 SEMAPHORIN A-V] | |||
* [http://omim.org/entry/173350 PLASMINOGEN; PLG] | |||
* [http://omim.org/entry/178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD] | |||
* [http://omim.org/entry/603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2] | |||
* [http://omim.org/entry/156240 MESOTHELIOMA, MALIGNANT] | |||
* [http://omim.org/entry/601159 CHEMOKINE (C-C) RECEPTOR 1; CMKBR1] | |||
* [http://omim.org/entry/225350 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4] | |||
* [http://omim.org/entry/138350 GLUTATHIONE S-TRANSFERASE, MU 1; GSTM1] | |||
* [http://omim.org/entry/136950 PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE] | |||
* [http://omim.org/entry/600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA; SCNN1A] | |||
* [http://omim.org/entry/600865 RETICULON 1; RTN1] | |||
* [http://omim.org/entry/601124 SEMAPHORIN III/F; SEMA3F] | |||
* [http://omim.org/entry/168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH] | |||
* [http://omim.org/entry/124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1] | |||
* [http://omim.org/entry/120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1] | |||
* [http://omim.org/entry/601339 THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING] | |||
* [http://omim.org/entry/141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1] | |||
* [http://omim.org/entry/158343 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP] | |||
* [http://omim.org/entry/139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1] | |||
* [http://omim.org/entry/600997 EPHRIN RECEPTOR EphB2; EPHB2] | |||
* [http://omim.org/entry/603306 TRANSCRIPTION FACTOR 21; TCF21] | |||
* [http://omim.org/entry/600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G] | |||
* [http://omim.org/entry/178500 PULMONARY FIBROSIS, IDIOPATHIC] | |||
* [http://omim.org/entry/603250 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6] | |||
* [http://omim.org/entry/601364 CADHERIN 13; CDH13] | |||
* [http://omim.org/entry/203300 HERMANSKY-PUDLAK SYNDROME; HPS] | |||
* [http://omim.org/entry/603120 QUIESCIN Q6; QSCN6] | |||
* [http://omim.org/entry/178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB] | |||
* [http://omim.org/entry/602215 DEFENSIN, BETA-2; DEFB2] | |||
* [http://omim.org/entry/113705 BREAST CANCER, TYPE 1; BRCA1] | |||
* [http://omim.org/entry/194533 ZINC FINGER PROTEIN 35; ZNF35] | |||
* [http://omim.org/entry/153600 MACROGLOBULINEMIA, WALDENSTROM; WM] | |||
* [http://omim.org/entry/170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1] | |||
* [http://omim.org/entry/190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1] | |||
* [http://omim.org/entry/300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2] | |||
* [http://omim.org/entry/172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B] | |||
* [http://omim.org/entry/108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY] | |||
* [http://omim.org/entry/602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2] | |||
* [http://omim.org/entry/602913 CYTOKINE-INDUCIBLE KINASE; CNK] | |||
* [http://omim.org/entry/300091 FOS-INDUCED GROWTH FACTOR; FIGF] | |||
* [http://omim.org/entry/118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4] | |||
* [http://omim.org/entry/114400 CANCER] | |||
* [http://omim.org/entry/601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D] | |||
* [http://omim.org/entry/138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB] | |||
* [http://omim.org/entry/116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA] | |||
* [http://omim.org/entry/114900 CARCINOID, INTESTINAL] | |||
* [http://omim.org/entry/308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS] | |||
* [http://omim.org/entry/138321 GLUTATHIONE PEROXIDASE 3; GPX3] | |||
* [http://omim.org/entry/601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE-1] | |||
* [http://omim.org/entry/123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY] | |||
* [http://omim.org/entry/602560 TRACHEAL ANTIMICROBIAL PEPTIDE] | |||
* [http://omim.org/entry/313850 THORACOABDOMINAL SYNDROME; THAS] | |||
* [http://omim.org/entry/601252 FICOLIN 1; FCN1] | |||
* [http://omim.org/entry/602614 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1] | |||
* [http://omim.org/entry/117550 CEREBRAL GIGANTISM] | |||
* [http://omim.org/entry/146510 PALLISTER-HALL SYNDROME; PHS] | |||
* [http://omim.org/entry/602908 B5T OVEREXPRESSED GENE] | |||
* [http://omim.org/entry/236680 HYDROLETHALUS SYNDROME] | |||
* [http://omim.org/entry/236000 HODGKIN DISEASE] | |||
* [http://omim.org/entry/147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA] | |||
* [http://omim.org/entry/132700 EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC] | |||
* [http://omim.org/entry/601153 FRAGILE HISTIDINE TRIAD GENE; FHIT] | |||
* [http://omim.org/entry/600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2] | |||
* [http://omim.org/entry/131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB] | |||
* [http://omim.org/entry/116845 CATHEPSIN S; CTSS] | |||
* [http://omim.org/entry/130710 EMPHYSEMA, CONGENITAL LOBAR; CLE] | |||
* [http://omim.org/entry/211890 CAMPOMELIA, CUMMING TYPE] | |||
* [http://omim.org/entry/151570 LEUKOTRIENE A4 HYDROLASE; LTA4H] | |||
* [http://omim.org/entry/273395 TETRA-AMELIA WITH PULMONARY HYPOPLASIA] | |||
* [http://omim.org/entry/208500 ASPHYXIATING THORACIC DYSTROPHY; ATD] | |||
* [http://omim.org/entry/601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS] | |||
* [http://omim.org/entry/200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA] | |||
* [http://omim.org/entry/600635 THYROID TRANSCRIPTION FACTOR 1; TITF1] | |||
* [http://omim.org/entry/141900 HEMOGLOBIN--BETA LOCUS; HBB] | |||
* [http://omim.org/entry/192340 ARGININE VASOPRESSIN; AVP] | |||
* [http://omim.org/entry/601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1] | |||
* [http://omim.org/entry/300107 BOMBESIN-LIKE RECEPTOR 3; BRS3] | |||
* [http://omim.org/entry/162332 NEUROKININ 3 RECEPTOR; NK3R] | |||
* [http://omim.org/entry/176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG] | |||
* [http://omim.org/entry/179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF] | |||
* [http://omim.org/entry/190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3] | |||
* [http://omim.org/entry/158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY] | |||
* [http://omim.org/entry/183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE] | |||
* [http://omim.org/entry/162200 NEUROFIBROMATOSIS, TYPE I; NF1] | |||
* [http://omim.org/entry/162323 TACHYKININ 1 RECEPTOR; TACR1] | |||
* [http://omim.org/entry/190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC] | |||
* [http://omim.org/entry/167050 OXYTOCIN--NEUROPHYSIN I; OXT] | |||
* [http://omim.org/entry/180610 RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC] | |||
* [http://omim.org/entry/185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3] | |||
* [http://omim.org/entry/141251 HEME OXYGENASE 2; HMOX2] | |||
* [http://omim.org/entry/137100 GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF] | |||
* [http://omim.org/entry/142408 MACROPHAGE STIMULATING 1; MST1] | |||
* [http://omim.org/entry/164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS] | |||
* [http://omim.org/entry/132350 EPIMORPHIN; EPIM] | |||
* [http://omim.org/entry/143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD] | |||
* [http://omim.org/entry/149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD] | |||
* [http://omim.org/entry/123280 CREATINE KINASE, BRAIN TYPE; CKB; CKBB] | |||
* [http://omim.org/entry/134797 FIBRILLIN 1; FBN1] | |||
* [http://omim.org/entry/168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4] | |||
* [http://omim.org/entry/120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1] | |||
* [http://omim.org/entry/118910 CHROMOGRANIN A; CHGA] | |||
* [http://omim.org/entry/114480 CANCER OF THE BREAST, FAMILIAL; BCS] | |||
* [http://omim.org/entry/134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1] | |||
* [http://omim.org/entry/114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA] | |||
* [http://omim.org/entry/126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A] | |||
* [http://omim.org/entry/113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME] | |||
* [http://omim.org/entry/109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2] | |||
* [http://omim.org/entry/172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT] | |||
* [http://omim.org/entry/109400 BASAL CELL NEVUS SYNDROME; BCNS] | |||
* [http://omim.org/entry/173600 PNEUMOTHORAX, SPONTANEOUS] | |||
* [http://omim.org/entry/175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION] | |||
* [http://omim.org/entry/109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1] | |||
* [http://omim.org/entry/100800 ACHONDROPLASIA; ACH] | |||
* [http://omim.org/entry/100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1] | |||
* [http://omim.org/entry/155600 MELANOMA, MALIGNANT] | |||
* [http://omim.org/entry/271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME] | |||
* [http://omim.org/entry/602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1] | |||
* [http://omim.org/entry/600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R] | |||
* [http://omim.org/entry/600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2] | |||
* [http://omim.org/entry/314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED] | |||
* [http://omim.org/entry/601916 ARGININE-RICH PROTEIN] | |||
* [http://omim.org/entry/176946 EPHRIN RECEPTOR EphA2; EPHA2] | |||
* [http://omim.org/entry/253300 SPINAL MUSCULAR ATROPHY I; SMA1] | |||
* [http://omim.org/entry/253240 MUCUS INSPISSATION OF RESPIRATORY TRACT] | |||
* [http://omim.org/entry/600718 MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1] | |||
* [http://omim.org/entry/178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL] | |||
* [http://omim.org/entry/246550 LICHTENSTEIN SYNDROME] | |||
* [http://omim.org/entry/602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB] | |||
* [http://omim.org/entry/600517 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1] | |||
* [http://omim.org/entry/602227 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19] | |||
* [http://omim.org/entry/600133 LAMININ, ALPHA-4; LAMA4] | |||
* [http://omim.org/entry/602187 ZINC FINGER PROTEIN 195; ZNF195] | |||
* [http://omim.org/entry/179610 EPHRIN RECEPTOR EphA1; EPHA1] | |||
* [http://omim.org/entry/179618 RECOVERIN; RCV1] | |||
* [http://omim.org/entry/600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A] | |||
* [http://omim.org/entry/180300 RHEUMATOID ARTHRITIS] | |||
* [http://omim.org/entry/602261 MATRIX METALLOPROTEINASE 15; MMP15] | |||
* [http://omim.org/entry/307800 HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS] | |||
* [http://omim.org/entry/601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30] | |||
* [http://omim.org/entry/601492 HYALURONIDASE DEFICIENCY] | |||
* [http://omim.org/entry/601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1] | |||
* [http://omim.org/entry/219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS] | |||
* [http://omim.org/entry/603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10] | |||
* [http://omim.org/entry/600841 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1] | |||
* [http://omim.org/entry/603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3] | |||
* [http://omim.org/entry/603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11] | |||
* [http://omim.org/entry/603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1] | |||
* [http://omim.org/entry/600527 EPHRIN B2; EFNB2] | |||
* [http://omim.org/entry/208150 PENA-SHOKEIR SYNDROME, TYPE I] | |||
* [http://omim.org/entry/243800 JOHANSON-BLIZZARD SYNDROME; JBS] | |||
* [http://omim.org/entry/600337 BRADYKININ RECEPTOR B1; BDKRB1] | |||
* [http://omim.org/entry/188060 THROMBOSPONDIN I; THBS1] | |||
* [http://omim.org/entry/602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4] | |||
* [http://omim.org/entry/242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA] | |||
* [http://omim.org/entry/242650 IMMOTILE CILIA SYNDROME 1; ICS1] | |||
* [http://omim.org/entry/602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2] | |||
* [http://omim.org/entry/601988 LIM DOMAIN KINASE 2; LIMK2] | |||
* [http://omim.org/entry/309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE] | |||
* [http://omim.org/entry/601835 CHEMOKINE (C-C) RECEPTOR 6; CMKBR6] | |||
* [http://omim.org/entry/601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2] | |||
* [http://omim.org/entry/300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2] | |||
* [http://omim.org/entry/190315 SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3] | |||
* [http://omim.org/entry/601923 SEMAPHORIN IV] | |||
* [http://omim.org/entry/227850 FANCONI-LIKE SYNDROME] | |||
* [http://omim.org/entry/601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10] | |||
* [http://omim.org/entry/601033 LAMININ, ALPHA-5; LAMA5] | |||
* [http://omim.org/entry/267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA] | |||
* [http://omim.org/entry/192020 UTEROGLOBIN; UGB] | |||
* [http://omim.org/entry/192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1] | |||
* [http://omim.org/entry/603165 ECZEMA, ATOPIC] | |||
* [http://omim.org/entry/603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12; TNFRSF12] | |||
* [http://omim.org/entry/600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1] | |||
* [http://omim.org/entry/279000 YOUNG SYNDROME] | |||
* [http://omim.org/entry/602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3] | |||
* [http://omim.org/entry/602294 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A] | |||
* [http://omim.org/entry/192350 VATER ASSOCIATION] | |||
* [http://omim.org/entry/192500 LONG QT SYNDROME, TYPE 1] | |||
* [http://omim.org/entry/192974 INTEGRIN, ALPHA-2; ITGA2] | |||
* [http://omim.org/entry/193670 WHIM SYNDROME] | |||
* [http://omim.org/entry/156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1] | |||
* [http://omim.org/entry/154705 MARFAN-LIKE CONNECTIVE TISSUE DISORDER] | |||
* [http://omim.org/entry/208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES] | |||
* [http://omim.org/entry/154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP] | |||
* [http://omim.org/entry/202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS] | |||
* [http://omim.org/entry/211400 BRONCHIECTASIS] | |||
* [http://omim.org/entry/152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5] | |||
* [http://omim.org/entry/157145 MICROSEMINOPROTEIN, BETA; MSMB] | |||
* [http://omim.org/entry/218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY] | |||
* [http://omim.org/entry/156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2] | |||
* [http://omim.org/entry/153450 LYSOZYME; LYZ] | |||
* [http://omim.org/entry/150292 LAMININ, GAMMA-2; LAMC2] | |||
* [http://omim.org/entry/190930 TROPOMODULIN; TMOD] | |||
* [http://omim.org/entry/220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF] | |||
* [http://omim.org/entry/150240 LAMININ, BETA-1; LAMB1] | |||
* [http://omim.org/entry/191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1] | |||
* [http://omim.org/entry/158070 MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1] | |||
* [http://omim.org/entry/160994 N-ACETYLGLUCOSAMINE RECEPTOR, THYROID] | |||
* [http://omim.org/entry/162341 NEUROMEDIN B RECEPTOR; NMBR] | |||
* [http://omim.org/entry/162643 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R] | |||
* [http://omim.org/entry/187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT] | |||
* [http://omim.org/entry/233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I] | |||
* [http://omim.org/entry/163729 NITRIC OXIDE SYNTHASE 3; NOS3] | |||
* [http://omim.org/entry/164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2] | |||
* [http://omim.org/entry/153200 LYMPHEDEMA, HEREDITARY II] | |||
* [http://omim.org/entry/147561 INTEGRIN, BETA-5; ITGB5] | |||
* [http://omim.org/entry/188595 THYROTROPH EMBRYONIC FACTOR; TEF] | |||
* [http://omim.org/entry/239500 HYPERPROLINEMIA, TYPE I] | |||
* [http://omim.org/entry/190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES] | |||
* [http://omim.org/entry/164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1] | |||
* [http://omim.org/entry/189971 E2F TRANSCRIPTION FACTOR 1; E2F1] | |||
187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD] | |||
* [http://omim.org/entry/187520 TETRANECTIN; TNA] | |||
* [http://omim.org/entry/208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES] | |||
* [http://omim.org/entry/245650 LARSEN-LIKE SYNDROME, LETHAL TYPE] | |||
* [http://omim.org/entry/246400 LETTERER-SIWE DISEASE] | |||
* [http://omim.org/entry/186854 SOLUTE CARRIER FAMILY 6, MEMBER 6; SLC6A6] | |||
* [http://omim.org/entry/164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A] | |||
* [http://omim.org/entry/210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION] | |||
* [http://omim.org/entry/185430 CLUSTERIN; CLU] | |||
* [http://omim.org/entry/182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1] | |||
* [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://omim.org/entry/151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL] | |||
* [http://omim.org/entry/145000 HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; FIHP] | |||
* [http://omim.org/entry/264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1] | |||
* [http://omim.org/entry/144700 RENAL CELL CARCINOMA 1; RCC1] | |||
* [http://omim.org/entry/265300 PULMONARY CYSTIC LYMPHANGIECTASIS] | |||
* [http://omim.org/entry/265430 PULMONARY HYPOPLASIA] | |||
* [http://omim.org/entry/169615 DESMOGLEIN 3; DSG3] | |||
* [http://omim.org/entry/142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1] | |||
* [http://omim.org/entry/142570 HEXOKINASE 3; HK3] | |||
* [http://omim.org/entry/182454 SOMATOSTATIN RECEPTOR 4; SSTR4] | |||
* [http://omim.org/entry/150570 LECTIN, BETA-GALACTOSIDE BINDING, SOLUBLE, 1; LGALS1] | |||
* [http://omim.org/entry/274210 THYMIC APLASIA WITH FETAL DEATH] | |||
* [http://omim.org/entry/138385 GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5] | |||
* [http://omim.org/entry/171050 P-GLYCOPROTEIN 1; PGY1] | |||
* [http://omim.org/entry/219800 CYSTINOSIS, NEPHROPATHIC; CTNS] | |||
* [http://omim.org/entry/137290 MEMBRANE COMPONENT, CHROMOSOME 1, SURFACE MARKER 1; M1S1] | |||
* [http://omim.org/entry/136430 FOLATE RECEPTOR 1, ADULT; FOLR1] | |||
* [http://omim.org/entry/300094 PROTEIN KINASE C, IOTA FORM; PRKCI] | |||
* [http://omim.org/entry/227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC] | |||
* [http://omim.org/entry/300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2] | |||
* [http://omim.org/entry/300102 GS2 GENE; DXS1283E] | |||
* [http://omim.org/entry/300103 APICAL PROTEIN, XENOPUS LAEVIS-LIKE; APXL] | |||
* [http://omim.org/entry/136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1] | |||
* [http://omim.org/entry/300135 ATP-BINDING CASSETTE 7; ABC7] | |||
* [http://omim.org/entry/300141 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C] | |||
* [http://omim.org/entry/228000 FARBER LIPOGRANULOMATOSIS] | |||
* [http://omim.org/entry/300159 THYMOSIN, BETA 4, X CHROMOSOME; TMSB4X] | |||
* [http://omim.org/entry/300167 HEPHAESTIN] | |||
* [http://omim.org/entry/182138 SOLUTE CARRIER FAMILY 6, MEMBER 4; SLC6A4] | |||
* [http://omim.org/entry/148180 FIBROBLAST GROWTH FACTOR 7; FGF7] | |||
* [http://omim.org/entry/302650 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1] | |||
* [http://omim.org/entry/182098 SECRETIN RECEPTOR; SCTR] | |||
* [http://omim.org/entry/233450 GOODPASTURE SYNDROME] | |||
* [http://omim.org/entry/306955 HETEROTAXY, VISCERAL, X-LINKED] | |||
* [http://omim.org/entry/147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2] | |||
* [http://omim.org/entry/233650 GRANULOMATOUS DISEASE DUE TO COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS] | |||
* [http://omim.org/entry/308240 LYMPHOPROLIFERATIVE SYNDROME] | |||
* [http://omim.org/entry/172250 PHOSPHOGLYCERATE MUTASE 1; PGAM1] | |||
* [http://omim.org/entry/311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1] | |||
* [http://omim.org/entry/134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6] | |||
* [http://omim.org/entry/176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10] | |||
* [http://omim.org/entry/171640 PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5] | |||
* [http://omim.org/entry/600010 INSULINOMA-ASSOCIATED 1; IA1] | |||
* [http://omim.org/entry/180660 POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A] | |||
* [http://omim.org/entry/172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A] | |||
* [http://omim.org/entry/178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2] | |||
* [http://omim.org/entry/234820 HEMANGIOPERICYTOMA, MALIGNANT] | |||
* [http://omim.org/entry/234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY] | |||
* [http://omim.org/entry/176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1] | |||
* [http://omim.org/entry/175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC] | |||
* [http://omim.org/entry/238600 HYPERLIPOPROTEINEMIA, TYPE I] | |||
* [http://omim.org/entry/600185 BREAST CANCER 2, EARLY-ONSET; BRCA2] | |||
* [http://omim.org/entry/600212 FATTY ACID SYNTHASE; FASN] | |||
* [http://omim.org/entry/131242 ENDOTHELIN 3; EDN3] | |||
* [http://omim.org/entry/600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3] | |||
* [http://omim.org/entry/600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13] | |||
* [http://omim.org/entry/600277 INHIBITOR OF DNA BINDING 3; ID3] | |||
* [http://omim.org/entry/600280 NUCLEOTIDE-BINDING PROTEIN; NBP] | |||
* [http://omim.org/entry/241800 HYPOTHALAMIC HAMARTOMAS] | |||
* [http://omim.org/entry/600299 PERICENTRIOLAR MATERIAL 1; PCM1] | |||
* [http://omim.org/entry/600308 AQUAPORIN 4; AQP4] | |||
* [http://omim.org/entry/600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD] | |||
* [http://omim.org/entry/147540 INSECT STINGS, HYPERSENSITIVITY TO] | |||
* [http://omim.org/entry/600346 ZINC FINGER PROTEIN 144; ZNF144] | |||
* [http://omim.org/entry/600390 UPSTREAM STIMULATORY FACTOR 2; USF2] | |||
* [http://omim.org/entry/600401 ETS-RELATED PROTEIN; ERP] | |||
* [http://omim.org/entry/600409 PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR, DELTA; PPARD] | |||
* [http://omim.org/entry/600442 AQUAPORIN 5; AQP5] | |||
* [http://omim.org/entry/147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R] | |||
* [http://omim.org/entry/600466 ALDEHYDE DEHYDROGENASE 7; ALDH7] | |||
* [http://omim.org/entry/131240 ENDOTHELIN 1; EDN1] | |||
* [http://omim.org/entry/176705 PROHIBITIN; PHB] | |||
* [http://omim.org/entry/178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC] | |||
* [http://omim.org/entry/600535 MESENCHYME HOMEO BOX 2; MEOX2] | |||
* [http://omim.org/entry/600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4] | |||
* [http://omim.org/entry/600579 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO] | |||
* [http://omim.org/entry/600592 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7; MCM7] | |||
* [http://omim.org/entry/130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM] | |||
* [http://omim.org/entry/252800 MUCOPOLYSACCHARIDOSIS TYPE I; MPS I] | |||
* [http://omim.org/entry/178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1] | |||
* [http://omim.org/entry/178550 PULMONARY HEMOSIDEROSIS] | |||
* [http://omim.org/entry/128100 DYSTONIA 1, TORSION; DYT1] | |||
* [http://omim.org/entry/600641 SULFOTRANSFERASE, MONOAMINE-PREFERRING; STM] | |||
* [http://omim.org/entry/600667 FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2] | |||
* [http://omim.org/entry/600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2] | |||
* [http://omim.org/entry/178600 PULMONARY HYPERTENSION, PRIMARY; PPH1] | |||
* [http://omim.org/entry/600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1] | |||
* [http://omim.org/entry/257200 NIEMANN-PICK DISEASE] | |||
* [http://omim.org/entry/600722 PALMITOYL-PROTEIN THIOESTERASE; PPT] | |||
* [http://omim.org/entry/256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2] | |||
* [http://omim.org/entry/600747 T-BOX 2; TBX2] | |||
* [http://omim.org/entry/256700 NEUROBLASTOMA; NB] | |||
* [http://omim.org/entry/600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA; SCNN1B] | |||
* [http://omim.org/entry/600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA; SCNN1G] | |||
* [http://omim.org/entry/600782 SYNAPTOTAGMIN 5; SYT5] | |||
* [http://omim.org/entry/600784 GRANZYME K; GZMK] | |||
* [http://omim.org/entry/600818 TRANSGELIN; TAGLN] | |||
* [http://omim.org/entry/600834 ZINC FINGER PROTEIN 165; ZNF165] | |||
* [http://omim.org/entry/176785 PROLYLCARBOXYPEPTIDASE; PRCP] | |||
* [http://omim.org/entry/259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE] | |||
* [http://omim.org/entry/125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 49; EPB49] | |||
* [http://omim.org/entry/600866 PROGRAMMED CELL DEATH 2; PDCD2] | |||
* [http://omim.org/entry/600880 MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA] | |||
* [http://omim.org/entry/600979 LYMPHOTOXIN B RECEPTOR; LTBR] | |||
* [http://omim.org/entry/124070 CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1] | |||
* [http://omim.org/entry/601030 RIBONUCLEASE A FAMILY, 4; RNASE4] | |||
* [http://omim.org/entry/139185 GROWTH ARREST-SPECIFIC 1; GAS1] | |||
* [http://omim.org/entry/601047 CAVEOLIN 1; CAV1] | |||
* [http://omim.org/entry/601060 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 2; PDNP2] | |||
* [http://omim.org/entry/123900 VILLIN 2; VIL2] | |||
* [http://omim.org/entry/601099 SRC-LIKE ADAPTOR; SLA] | |||
* [http://omim.org/entry/601106 BB1 GENE] | |||
* [http://omim.org/entry/601119 CLPP PROTEASE] | |||
* [http://omim.org/entry/123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8] | |||
* [http://omim.org/entry/122560 CORTICOTROPIN-RELEASING HORMONE; CRH] | |||
* [http://omim.org/entry/601157 DEFENSIN, ALPHA 4; DEFA4] | |||
* [http://omim.org/entry/122500 CORTICOSTEROID-BINDING GLOBULIN; CBG] | |||
* [http://omim.org/entry/601160 LISSENCEPHALY SYNDROME TYPE III] | |||
* [http://omim.org/entry/601168 DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3] | |||
* [http://omim.org/entry/601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA] | |||
* [http://omim.org/entry/601192 PHOSPHOLIPASE A2, GROUP V; PLA2G5] | |||
* [http://omim.org/entry/601200 PLEUROPULMONARY BLASTOMA] | |||
* [http://omim.org/entry/601241 HISTONE DEACETYLASE 1; HDAC1] | |||
* [http://omim.org/entry/120325 COLLAGEN, TYPE XV, ALPHA-1; COL15A1] | |||
* [http://omim.org/entry/118450 ALAGILLE SYNDROME; AGS] | |||
* [http://omim.org/entry/277900 WILSON DISEASE] | |||
* [http://omim.org/entry/601300 ACTIVIN A RECEPTOR, TYPE IB; ACVR1B] | |||
* [http://omim.org/entry/601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH] | |||
* [http://omim.org/entry/601331 RENAL DYSPLASIA, DIFFUSE CYSTIC] | |||
* [http://omim.org/entry/117340 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2] | |||
* [http://omim.org/entry/601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY] | |||
* [http://omim.org/entry/116947 CELL DIVISION CYCLE 25A; CDC25A] | |||
* [http://omim.org/entry/300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1] | |||
* [http://omim.org/entry/116810 CATHEPSIN B; CTSB] | |||
* [http://omim.org/entry/601365 DISHEVELLED 1; DVL1] | |||
* [http://omim.org/entry/601385 PUTATIVE PROSTATE CANCER TUMOR SUPPRESSOR] | |||
* [http://omim.org/entry/601404 G PROTEIN-COUPLED RECEPTOR, OVARIAN CANCER, 1; OGR1] | |||
* [http://omim.org/entry/601425 TRANSCRIPTION ELONGATION FACTOR A (SII), 1; TCEA1] | |||
* [http://omim.org/entry/601447 UBIQUITIN-SPECIFIC PROTEASE 5; USP5] | |||
* [http://omim.org/entry/601460 SOLUTE CARRIER FAMILY 21, MEMBER 2; SLC21A2] | |||
* [http://omim.org/entry/601476 LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5] | |||
* [http://omim.org/entry/601485 SYNTAXIN 1B; STX1B] | |||
* [http://omim.org/entry/301500 ANGIOKERATOMA, DIFFUSE] | |||
* [http://omim.org/entry/601504 SEC14 (S. CEREVISIAE)-LIKE; SEC14L] | |||
* [http://omim.org/entry/116805 CATENIN, ALPHA-1; CTNNA1] | |||
* [http://omim.org/entry/601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14] | |||
* [http://omim.org/entry/601526 CHONDROCYTE PROTEIN YKL39] | |||
* [http://omim.org/entry/601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A] | |||
* [http://omim.org/entry/ [http://omim.org/entry/114500 CANCER OF COLON] | |||
* [http://omim.org/entry/601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4] | |||
* [http://omim.org/entry/601591 PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2] | |||
* [http://omim.org/entry/114290 CAMPOMELIC DYSPLASIA] | |||
* [http://omim.org/entry/601615 ATP-BINDING CASSETTE 3; ABC3] | |||
* [http://omim.org/entry/601618 SOX18, MOUSE, HOMOLOG OF] | |||
* [http://omim.org/entry/601620 T-BOX 5; TBX5] | |||
* [http://omim.org/entry/601636 HYALURONAN SYNTHASE 2; HAS2] | |||
* [http://omim.org/entry/601637 CYTOCHROME P450, 51; CYP51] | |||
* [http://omim.org/entry/601656 GATA-BINDING PROTEIN 6; GATA6] | |||
* [http://omim.org/entry/601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2] | |||
* [http://omim.org/entry/601697 PROTEASE INHIBITOR 8, OVALBUMIN TYPE; PI8] | |||
* [http://omim.org/entry/601717 SYNTAXIN-BINDING PROTEIN 2; STXBP2] | |||
* [http://omim.org/entry/601721 APOPTOSIS INHIBITOR 2; API2] | |||
* [http://omim.org/entry/301870 BIGLYCAN; BGN] | |||
* [http://omim.org/entry/601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9] | |||
* [http://omim.org/entry/303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6] | |||
* [http://omim.org/entry/601807 MATRIX METALLOPROTEINASE 18; MMP18] | |||
* [http://omim.org/entry/601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS] | |||
* [http://omim.org/entry/305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR] | |||
* [http://omim.org/entry/601914 PROLINE ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP] | |||
* [http://omim.org/entry/176945 EPHRIN RECEPTOR EphA8; EPHA8] | |||
* [http://omim.org/entry/134780 FEMORAL-FACIAL SYNDROME; FFS] | |||
* [http://omim.org/entry/601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2] | |||
* [http://omim.org/entry/601968 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B] | |||
* [http://omim.org/entry/601981 RIBONUCLEASE A FAMILY, 6; RNASE6] | |||
* [http://omim.org/entry/114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-2/DELTA SUBUNIT; CACNA2] | |||
* [http://omim.org/entry/133090 ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72] | |||
* [http://omim.org/entry/601989 S100 CALCIUM-BINDING PROTEIN A13; S100A13] | |||
* [http://omim.org/entry/114190 CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR] | |||
* [http://omim.org/entry/602033 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE; EMAPL] | |||
* [http://omim.org/entry/602046 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58] | |||
* [http://omim.org/entry/602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B] | |||
* [http://omim.org/entry/602053 CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB] | |||
* [http://omim.org/entry/114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10] | |||
* [http://omim.org/entry/602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR] | |||
* [http://omim.org/entry/602100 PBX/KNOTTED 1 HOMEO BOX 1; PKNOX1] | |||
* [http://omim.org/entry/602106 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15] | |||
* [http://omim.org/entry/113995 C5a ANAPHYLATOXIN RECEPTOR; C5AR] | |||
* [http://omim.org/entry/602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1] | |||
* [http://omim.org/entry/600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR] | |||
* [http://omim.org/entry/602131 TUMOR-SUPPRESSING SUBTRANSFERABLE CANDIDATE 3; TSSC3] | |||
* [http://omim.org/entry/602142 PHOSPHOLIPASE C, DELTA 1; PLCD1] | |||
* [http://omim.org/entry/602146 LIM HOMEO BOX PROTEIN 4] | |||
* [http://omim.org/entry/602183 BAGPIPE HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1] | |||
* [http://omim.org/entry/176914 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC] | |||
* [http://omim.org/entry/113503 BRADYKININ RECEPTOR B2; BDKRB2] | |||
* [http://omim.org/entry/600134 MELANOMA ASSOCIATED GENE 50; MG50; D2S448] | |||
* [http://omim.org/entry/602245 GUANINE NUCLEOTIDE-BINDING PROTEIN GP1] | |||
* [http://omim.org/entry/602248 MALIGNANT ATROPHIC PAPULOSIS] | |||
* [http://omim.org/entry/602253 GUT-ENRICHED KRUPPEL-LIKE FACTOR] | |||
* [http://omim.org/entry/600170 AQUAPORIN 3; AQP3] | |||
* [http://omim.org/entry/602262 MATRIX METALLOPROTEINASE 16; MMP16] | |||
* [http://omim.org/entry/602263 MATRIX METALLOPROTEINASE 19; MMP19] | |||
* [http://omim.org/entry/602265 HUMAN ENHANCER OF FILAMENTATION 1] | |||
* [http://omim.org/entry/602272 TRANSCRIPTION FACTOR 4; TCF4] | |||
* [http://omim.org/entry/602282 G PROTEIN-COUPLED RECEPTOR, ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2] | |||
* [http://omim.org/entry/602291 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 13; FKHL13] | |||
* [http://omim.org/entry/600182 SOLUTE CARRIER FAMILY 7, MEMBER 5; SLC7A5] | |||
* [http://omim.org/entry/602297 EPHRIN B3; EFNB3] | |||
* [http://omim.org/entry/602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP] | |||
* [http://omim.org/entry/602326 RIBOSOMAL PROTEIN L23A; RPL23A] | |||
* [http://omim.org/entry/600284 ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE] | |||
* [http://omim.org/entry/602335 EPITHELIAL MEMBRANE PROTEIN 3; EMP3] | |||
* [http://omim.org/entry/602336 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 1; NTRKR1] | |||
* [http://omim.org/entry/602365 CATHEPSIN C; CTSC] | |||
* [http://omim.org/entry/602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1] | |||
* [http://omim.org/entry/602384 PHOSPHOLIPASE D2, PHOSPHATIDYLCHOLINE-SPECIFIC] | |||
* [http://omim.org/entry/602396 ANNEXIN VIII; ANX8] | |||
* [http://omim.org/entry/112265 BONE MORPHOGENETIC PROTEIN 5; BMP5] | |||
* [http://omim.org/entry/602437 GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR] | |||
* [http://omim.org/entry/602441 CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH] | |||
* [http://omim.org/entry/602449 A KINASE ANCHOR PROTEIN, 149-KD] | |||
* [http://omim.org/entry/602455 REGENERATION-ASSOCIATED SERPIN-1] | |||
* [http://omim.org/entry/602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3] | |||
* [http://omim.org/entry/602489 GAP-ASSOCIATED TYROSINE PHOSPHOPROTEIN, 62-KD] | |||
* [http://omim.org/entry/602494 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 23; SCYA23] | |||
* [http://omim.org/entry/176888 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM] | |||
* [http://omim.org/entry/600447 ZIPPER PROTEIN KINASE; ZPK] | |||
* [http://omim.org/entry/602512 REGULATOR OF G PROTEIN SIGNALING 12; RGS12] | |||
* [http://omim.org/entry/602513 REGULATOR OF G PROTEIN SIGNALING 14] | |||
* [http://omim.org/entry/602517 REGULATOR OF G PROTEIN SIGNALING 7; RGS7] | |||
* [http://omim.org/entry/602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7] | |||
* [http://omim.org/entry/602525 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2] | |||
* [http://omim.org/entry/110700 BLOOD GROUP--DUFFY SYSTEM; Fy] | |||
* [http://omim.org/entry/602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION] | |||
* [http://omim.org/entry/602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1] | |||
* [http://omim.org/entry/602607 SOLUTE CARRIER FAMILY 22, MEMBER 1; SLC22A1] | |||
* [http://omim.org/entry/107323 ANTIQUITIN; ATQ1] | |||
* [http://omim.org/entry/602692 GLIOMA PATHOGENESIS-RELATED PROTEIN] | |||
* [http://omim.org/entry/106165 ANGIOTENSIN RECEPTOR 1; AGTR1] | |||
* [http://omim.org/entry/602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B] | |||
* [http://omim.org/entry/602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14] | |||
* [http://omim.org/entry/602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4] | |||
* [http://omim.org/entry/602779 COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3] | |||
* [http://omim.org/entry/602835 GROWTH ARREST-SPECIFIC 2; GAS2] | |||
* [http://omim.org/entry/602840 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7] | |||
* [http://omim.org/entry/600613 NEUROBLASTOMA TUMOR SUPPRESSOR GENE DAN; D1S1733E] | |||
* [http://omim.org/entry/602883 SOLUTE CARRIER FAMILY 21, MEMBER 3; SLC21A3] | |||
* [http://omim.org/entry/104610 AMILORIDE-BINDING PROTEIN 1; ABP1] | |||
* [http://omim.org/entry/602909 CLAUDIN 4; CLDN4] | |||
* [http://omim.org/entry/602910 CLAUDIN 3; CLDN3] | |||
* [http://omim.org/entry/103720 ALCOHOL DEHYDROGENASE 2; ADH2] | |||
* [http://omim.org/entry/602914 AQUAPORIN 9; AQP9] | |||
* [http://omim.org/entry/602929 LOSS OF HETEROZYGOSITY, 11, CHROMOSOMAL REGION 2, GENE A; LOH11CR2A] | |||
* [http://omim.org/entry/602933 THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6] | |||
* [http://omim.org/entry/602935 FATTY ACID AMIDE HYDROLASE; FAAH] | |||
* [http://omim.org/entry/602957 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 22; SCYA22] | |||
* [http://omim.org/entry/602980 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2] | |||
* [http://omim.org/entry/602986 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2] | |||
* [http://omim.org/entry/602987 PHOSPHODIESTERASE 1C; PDE1C] | |||
* [http://omim.org/entry/603007 CADHERIN 6; CDH6] | |||
* [http://omim.org/entry/603017 CADHERIN 17; CDH17] | |||
* [http://omim.org/entry/603019 CADHERIN 18; CDH18] | |||
* [http://omim.org/entry/603026 PLEOMORPHIC ADENOMA GENE 1; PLAG1] | |||
* [http://omim.org/entry/103275 ADRENOMEDULLIN; ADM] | |||
* [http://omim.org/entry/603076 WHITE, DROSOPHILA, HOMOLOG OF] | |||
* [http://omim.org/entry/600623 KANGAI 1; KAI1] | |||
* [http://omim.org/entry/102720 DIPEPTIDYLPEPTIDASE IV; DPP4] | |||
* [http://omim.org/entry/600626 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP] | |||
* [http://omim.org/entry/102700 ADENOSINE DEAMINASE; ADA] | |||
* [http://omim.org/entry/600690 T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA] | |||
* [http://omim.org/entry/603166 RAB8-INTERACTING PROTEIN; RAB8IP] | |||
* [http://omim.org/entry/603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2] | |||
* [http://omim.org/entry/102680 ADDUCIN 1; ADD1] | |||
* [http://omim.org/entry/603259 CANCER OSAKA THYROID ONCOGENE; COT] | |||
* [http://omim.org/entry/603271 PROTEIN-TYROSINE PHOSPHATASE D1] | |||
* [http://omim.org/entry/603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5] | |||
* [http://omim.org/entry/102660 ADAMANTINOMA OF LONG BONES] | |||
* [http://omim.org/entry/603314 VERY LONG-CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN] | |||
* [http://omim.org/entry/603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5] | |||
* [http://omim.org/entry/102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1] | |||
* [http://omim.org/entry/125597 DERMATOPONTIN; DPT] | |||
* [http://omim.org/entry/603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1] | |||
* [http://omim.org/entry/603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6] | |||
* [http://omim.org/entry/603410 FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7] | |||
* [http://omim.org/entry/603425 ADP-RIBOSYLATION FACTOR-LIKE 1; ARL1] | |||
* [http://omim.org/entry/603430 ZINC FINGER PROTEIN 202; ZNF202] | |||
* [http://omim.org/entry/603442 PROTEIN KINASE KKIAMRE] | |||
* [http://omim.org/entry/600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE] | |||
* [http://omim.org/entry/100660 ALDEHYDE DEHYDROGENASE 3; ALDH3] | |||
* [http://omim.org/entry/603517 B-CELL CLL/LYMPHOMA 10; BCL10] | |||
* [http://omim.org/entry/603539 CATHEPSIN F; CTSF] | |||
* [http://omim.org/entry/270100 SITUS INVERSUS VISCERUM] | |||
* [http://omim.org/entry/100600 ACANTHOSIS NIGRICANS] | |||
* [http://omim.org/entry/603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C] | |||
[[Category: Genetic Abnormalities]] | |||
{{Glossary}} | |||
{{Footer}} | |||
Latest revision as of 11:11, 20 September 2015
Embryology - 15 Jun 2024 Expand to Translate |
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Introduction
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
- Note a European based online database Orphanet describes rare diseases.
Links: Abnormal Development - Genetic | OMIM | Citing OMIM?
Citing a specific entry in OMIM |
---|
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM number}: {Date last edited}: . World Wide Web URL: http://omim.org/ |
Page Links
- Week 1 - Fertilization | Spermatozoa Motility | Spermatozoa
- Cardiovascular - 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
- Coelomic Cavity - Diaphragmatic Hernia
OMIM Pages by Developmental Topic
Week 1
- GLOBOZOOSPERMIA Acrosome Malformation of Spermatoza
- Zona Pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-inactivation-specific Transcript: Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Fertilization
- SPERM-SPECIFIC ANTIGEN 1; SSFA1 FERTILIZATION ANTIGEN 1
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- ZONA PELLUCIDA GLYCOPROTEIN 1
- APOLIPOPROTEIN B; APOB
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- ACROSOME MALFORMATION OF SPERMATOZOA
- FERTILIN, BETA; FTNB
- TUBULIN, GAMMA; TUBG
- KARTAGENER SYNDROME
- HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
- PROLACTIN RECEPTOR; PRLR
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
Spermatozoa Motility
- KARTAGENER SYNDROME
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- DYSTROPHIA MYOTONICA; DMPK
- IMMOTILE CILIA SYNDROME 1; ICS1
- APOLIPOPROTEIN B; APOB
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- USHER SYNDROME, TYPE IA; USH1A
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- SPINAL MUSCULAR ATROPHY I; SMA1
Spermatozoa
- OUTER DENSE FIBER OF SPERM TAILS 1; ODF1
- OUTER DENSE FIBER OF SPERM TAILS 2; ODF2
- SPERM ADHESION MOLECULE 1; SPAM1
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- SPERM PROTAMINE P4; PRM4
- SPERM PROTAMINE P1; PRM1
- DIAPHORASE 3; DIA3
- SPERM-ASSOCIATED ANTIGEN 1; SPAG1
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP
- SPERM MEMBRANE PROTEIN
- ENOLASE, SPERM SPECIFIC; ENO4
- UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1
- SPERM PROTAMINE P2; PRM2
- SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM
- KARTAGENER SYNDROME
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- DYSTROPHIA MYOTONICA; DMPK
- HUNTINGTON DISEASE; HD
- FERTILIN, BETA; FTNB
- LACTATE DEHYDROGENASE-C; LDHC
- DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1
- HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
- FRAGILE SITE MENTAL RETARDATION 1; FMR1
- ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1
- ANDROGEN RECEPTOR; AR
- CALMEGIN; CLGN
- IMMOTILE CILIA SYNDROME 1; ICS1
- PARATHYROID HORMONE; PTH
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- ACROSOME MALFORMATION OF SPERMATOZOA
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- APOLIPOPROTEIN B; APOB
- ZONA PELLUCIDA GLYCOPROTEIN 1
- SPINOCEREBELLAR ATAXIA 1; SCA1
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- COLLAGEN, TYPE I, ALPHA-1; COL1A1
- USHER SYNDROME, TYPE IA; USH1A
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A
- YOUNG SYNDROME
- VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
- CYLICIN 1; CYCL1
- CANCER OF THE BREAST, FAMILIAL; BCS
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- GLIOMA PATHOGENESIS-RELATED PROTEIN
- AQUAPORIN 7; AQP7
- ACROSIN; ACR
- COLLAGEN, TYPE I, ALPHA-2; COL1A2
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
- TESTIS-SPECIFIC PROTEIN 1; TPX1
- TUBULIN, GAMMA; TUBG
- INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA
- FRIEDREICH ATAXIA 1; FRDA
- RETINOBLASTOMA; RB1
- CLUSTERIN; CLU
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- MCCUNE-ALBRIGHT SYNDROME; MAS
- PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP
- VULVOVAGINITIS, ALLERGIC SEMINAL
- PHOSPHOGLYCERATE KINASE 2; PGK2
- ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B
- CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM
- ACHONDROPLASIA; ACH
- RETINITIS PIGMENTOSA 3; RP3
- TECTORIN, ALPHA; TECTA
- FERTILE EUNUCH
- SERINE/THREONINE PROTEIN KINASE 13; STK13
- GESTATIONAL TROPHOBLASTIC DISEASE
- RETINITIS PIGMENTOSA 2; RP2
- IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES
- SPINAL MUSCULAR ATROPHY I; SMA1
- GERMINAL CELL APLASIA
- ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG
- TECTORIN, BETA; TECTB
- ATAXIA-TELANGIECTASIA; AT
- VON WILLEBRAND DISEASE
- TRANSITION PROTEIN 2; TNP2
- TRANSITION PROTEIN 1; TNP1
- MYOSIN VIIA; MYO7A
- PSEUDOACHONDROPLASTIC DYSPLASIA
- PEM HOMEO BOX GENE, HUMAN HOMOLOG OF
- EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF
- HEMOPHILIA A
- HEMOPHILIA B; HEMB
- PRECOCIOUS PUBERTY, MALE-LIMITED
- PRADER-WILLI SYNDROME; PWS
- FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11
- SEX-DETERMINING REGION Y; SRY
- CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION
- GLUTAMATE DEHYDROGENASE 2
- BREAST CANCER 2, EARLY-ONSET; BRCA2
- CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
- TRANSCRIPTION FACTOR AP4; TFAP4
- PENTRAXIN II, NEURONAL; NPTX2
- LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A
- H1 HISTONE FAMILY, MEMBER 1; H1F1
- HEXOKINASE OF SPERMATOZOA
- HYALURONIDASE DEFICIENCY
- ATAXIN 2; ATX2
- HEAT-SHOCK 70-KD PROTEIN 2; HSPA2
- ESTROGEN RECEPTOR 2; ESR2
- F9 EMBRYONIC ANTIGEN; FEA
- FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B
- ZONADHESIN; ZAN
- FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
- BCL2-ASSOCIATED X PROTEIN; BAX
- EPIDERMAL GROWTH FACTOR; EGF
- ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41
- DIAPHORASE 2; DIA2
- CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
- CENTROMERIC PROTEIN A; CENPA
- CUT-LIKE, 1; CUTL1
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- ADULT SKELETAL MUSCLE GENE
- CYSTIC FIBROSIS; CF
Cardiovascular
Tetralogy of Fallot
- TETRALOGY OF FALLOT
- HYPERTELORISM AND TETRALOGY OF FALLOT
- TETRALOGY OF FALLOT AND GLAUCOMA
- FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
- DIGEORGE SYNDROME; DGS
- VELOCARDIOFACIAL SYNDROME
- RECOMBINANT CHROMOSOME 8 SYNDROME
- CONOTRUNCAL HEART MALFORMATIONS; CTHM
- NOONAN SYNDROME 1; NS1
- CAT EYE SYNDROME; CES
- FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA
- FRONTONASAL DYSPLASIA
- ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
- KABUKI SYNDROME
- APLASIA CUTIS CONGENITA
- METHACRYLICACIDURIA
- C SYNDROME
- ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
- SMITH-LEMLI-OPITZ SYNDROME, TYPE I
- THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME
- HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
- DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF
- ALAGILLE SYNDROME; AGS
- CHOANAL ATRESIA, POSTERIOR; PCA
- ZUNICH NEUROECTODERMAL SYNDROME
- MELNICK-NEEDLES OSTEODYSPLASTY
- PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE
- ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
- CARDIAC-SPECIFIC HOMEO BOX; CSX
- FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
- NEUROTROPHIN 3; NTF3
- ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
- CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA
- PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
- JAGGED 1; JAG1
- OTOFACIOCERVICAL SYNDROME
- PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
- LIGHT FIXATION SEIZURE SYNDROME
Atrial Septal Defect
- ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
- ATRIAL SEPTAL DEFECT; ASD
- ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
- AXENFELD-RIEGER ANOMALY WITH ATRIAL SEPTAL DEFECT AND SENSORINEURAL HEARING LOSS
- BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
- PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES
- LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES
- DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
- ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
- HOLT-ORAM SYNDROME; HOS
- CARDIOMYOPATHY, DILATED, 1A; CMD1A
- CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
- CARDIAC-SPECIFIC HOMEO BOX; CSX
- ROBINOW SYNDROME, RECESSIVE FORM
- CARDIAC CONDUCTION DEFECT
- ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL
- OCULOFACIOCARDIODENTAL SYNDROME
- CONGENITAL HEART DISEASE
- HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
- KABUKI SYNDROME
- CHOANAL ATRESIA, POSTERIOR; PCA
- CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
- PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE
- HEART BLOCK
- VELOCARDIOFACIAL SYNDROME
- MYXOMA, INTRACARDIAC
- SITUS INVERSUS VISCERUM
- POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1
- ACHONDROGENESIS, TYPE II; ACG2
- ASPLENIA WITH CARDIOVASCULAR ANOMALIES
- VATER ASSOCIATION
- FRONTONASAL DYSPLASIA
- DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE
- EBSTEIN ANOMALY
- CARDIOFACIOCUTANEOUS SYNDROME
- ELLIS-VAN CREVELD SYNDROME; EVC
- HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
- MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA
- ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B
- MCDONOUGH SYNDROME
- VENTRICLE, HYPOPLASIA OF RIGHT
- MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION
- PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
- WHITE FORELOCK WITH MALFORMATIONS
- CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
- POLYSYNDACTYLY WITH CARDIAC MALFORMATION
- ROBERTS SYNDROME; RBS
- PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT
- NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
- DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM
Musculoskeletal
Muscular Dystrophy
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
- FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
- EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
- EMERY-DREIFUSS MUSCULAR DYSTROPHY
- SARCOGLYCAN, ALPHA; SGCA
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
- OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
- TIBIAL MUSCULAR DYSTROPHY, TARDIVE
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
- MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
- MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL RECESSIVE
- FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B
- LAMININ, ALPHA-2; LAMA2
- DYSTROPHIA MYOTONICA; DMPK
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
- WALKER-WARBURG SYNDROME
- MIYOSHI MYOPATHY; MM
- CAVEOLIN 3; CAV3
- EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
- MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D
- MUSCULAR DYSTROPHY, SCAPULOHUMERAL
- MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES
- MUSCULAR DYSTROPHY, SCLEROATONIC
- MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS
- MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
- MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 4; LGMD4
- VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA
- MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE
- MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE
- MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY
- MUSCULAR DYSTROPHY, MABRY TYPE
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
- MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
- CARDIOMYOPATHY, DILATED, 1F; CMD1F
- MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
- MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV
- MENTAL RETARDATION, SCAPULOPERONEAL MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY
- MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE
- MUSCULAR DYSTROPHY, BARNES TYPE
- MUSCULAR DYSTROPHY, CARDIAC TYPE
- FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 1; FRG1
- AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS
- MUSCULAR ATROPHY, JUVENILE SPINAL
- SPINAL MUSCULAR ATROPHY III; SMA3
- DYSFERLIN; DYSF
- CALPAIN, LARGE POLYPEPTIDE L3; CAPN3
- SPINAL MUSCULAR ATROPHY I; SMA1
- SARCOGLYCAN, DELTA; SGCD
- SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; FSHSMA
- PLECTIN 1; PLEC1
- LAMIN A/C; LMNA
- UTROPHIN; UTRN
- HYPERGLYCEROLEMIA
- AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE
- DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1
- ADRENAL HYPOPLASIA, CONGENITAL; AHC
- WHISTLING FACE-WINDMILL VANE HAND SYNDROME
- SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
- ALBINISM, OCULAR, TYPE II; OA2
- DYSTROPHIA MYOTONICA 2; DM2
- HALLERVORDEN-SPATZ DISEASE
- MYOPATHY, DISTAL, WITH VOCAL CORD AND PHARYNGEAL WEAKNESS
- POLYADENYLATE-BINDING PROTEIN 2; PABP2
- CREATINE PHOSPHOKINASE, ELEVATED SERUM
- AMYOTROPHY, SCAPULOPERONEAL
- GLYCOGEN STORAGE DISEASE II
- MYOTONIA CONGENITA, DOMINANT
- MUSCLE-EYE-BRAIN DISEASE
- ANDROGEN RECEPTOR; AR
- DYSTROBREVIN, ALPHA; DTNA
- GRANULOMATOUS DISEASE, CHRONIC; CGD
- ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1
- COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG
- COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB
- RETINITIS PIGMENTOSA 2; RP2
- COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA
- ENGELMANN DISEASE
- INTEGRIN, ALPHA-7; ITGA7
- MYOPATHY, DISTAL 1; MPD1
- DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4
- NEUROFIBROMATOSIS, TYPE I; NF1
- NITRIC OXIDE SYNTHASE 1; NOS1
- FILAMIN A, ALPHA; FLNA
- SCAPULOPERONEAL MYOPATHY; SPM
- CAVEOLIN 1; CAV1
- CARBONIC ANHYDRASE III; CA3
- RETINITIS PIGMENTOSA 3; RP3
- EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION
- FORMIN; FMN
- MUCOPOLYSACCHARIDOSIS TYPE II
- RHO-GAP HEMATOPOIETIC PROTEIN C1
- CHROMOSOME X OPEN READING FRAME 5; CXORF5
- FIBRILLIN 1; FBN1
- PROXIMAL MYOTONIC MYOPATHY; PROMM
- KELL BLOOD GROUP PRECURSOR; XK
- DYSTROBREVIN, BETA; DTNB
- MARINESCO-SJOGREN SYNDROME; MSS
- LINE RETROTRANSPOSABLE ELEMENT 2; LRE2
- NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1
- MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1
- X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
- DESMIN; DES
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN
- CEREBROOCULOFACIOSKELETAL SYNDROME
- CARDIOMYOPATHY, DILATED, X-LINKED; XLCM
- MYOGLOBIN; MB
- GLYCOGEN STORAGE DISEASE IV
- RAS-ASSOCIATED PROTEIN RAB1; RAB1
- TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
- HEMOPHILIA A
- MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
- NONDISJUNCTION
- TITIN; TTN
- USHER SYNDROME, TYPE IIA; USH2A
- SCHWARTZ-JAMPEL SYNDROME; SJS
- ANGIOKERATOMA, DIFFUSE
- XG BLOOD GROUP SYSTEM; XG; PBDX
- SELENOPROTEIN P, PLASMA, 1; SEPP1
- COLLAGEN, TYPE VI, ALPHA-1; COL6A1
- TYRO3 PROTEIN TYROSINE KINASE; TYRO3
- MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; XMEA; MEAX
- ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
- PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1
- WARBURG MICRO SYNDROME
- CAVEOLIN 2; CAV2
- PAIRED BOX HOMEOTIC GENE 6; PAX6
- CENTRAL CORE DISEASE OF MUSCLE
- CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE
- GONADOTROPIN DEFICIENCY; GTD
- FACIOGENITAL DYSPLASIA; FGD1
- CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
- ALBINISM, OCULAR, TYPE 1; OA1
- INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
- GLYPICAN 3; GPC3
- ADRENOLEUKODYSTROPHY; ALD
- SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8
- SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1
- DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1
- COLLAGEN, TYPE VI, ALPHA-2; COL6A2
- ICHTHYOSIS, X-LINKED
- L1 CELL ADHESION MOLECULE; L1CAM
- TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR
- WHISTLING FACE SYNDROME, RECESSIVE FORM
- MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1
- TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
- LOWE OCULOCEREBRORENAL SYNDROME; OCRL
- AQUAPORIN 4; AQP4
- DYNACTIN 1; DCTN1
- LISSENCEPHALY SYNDROME TYPE III
- SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
- CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE 1; CASQ1; CASQ
- NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
- MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL
- MACHADO-JOSEPH DISEASE; MJD
- HASHIMOTO STRUMA
- LINE RETROTRANSPOSABLE ELEMENT 1; LRE1
- CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP
- MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK
- GLYCOGEN STORAGE DISEASE III
- DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
- ATAXIN 1; ATX1
- DYSEQUILIBRIUM SYNDROME; DES
- DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
- CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT
- NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
- RETINOBLASTOMA; RB1
- CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
- PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
- PELGER-HUET ANOMALY
- SPINOCEREBELLAR ATAXIA 1; SCA1
- NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1
- ZIC FAMILY MEMBER 2; ZIC2
- ACHONDROPLASIA; ACH
- OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL
Syndactyly
- SYNDACTYLY, TYPE III
- SYNDACTYLY, TYPE IV
- SYNDACTYLY, TYPE V
- CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
- SYNDACTYLY, TYPE I
- SYNDACTYLY, TYPE II
- ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION
- SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
- CENANI SYNDACTYLISM
- SCLEROSTEOSIS
- SAETHRE-CHOTZEN SYNDROME; SCS
- SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
- ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
- ANOPHTHALMOS WITH LIMB ANOMALIES
- POLAND SYNDROME
- SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME
- LONG QT SYNDROME WITH SYNDACTYLY
- APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV
- BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
- EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY
- STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
- TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
- OCULODENTODIGITAL DYSPLASIA; ODDD
- APERT SYNDROME
- POLYDACTYLY, PREAXIAL IV
- FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
- TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY
- CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES
- SMITH-LEMLI-OPITZ SYNDROME, TYPE I
- SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
- FOCAL DERMAL HYPOPLASIA; DHOF
- CRANIOSYNOSTOSIS, PHILADELPHIA TYPE
- GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
- PALLISTER-HALL SYNDROME; PHS
- POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
- ECTODERMAL DYSPLASIA, TYPE 4; ED4
- TOWNES-BROCKS SYNDROME; TBS
- FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
- LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
- POLYDACTYLY, POSTAXIAL
- OROFACIODIGITAL SYNDROME 1; OFD1
- NEURITIS WITH BRACHIAL PREDILECTION; NAPB
- OCULODIGITOESOPHAGODUODENAL SYNDROME
- OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE
- SCALP-EAR-NIPPLE SYNDROME
- EEM SYNDROME
- HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
- FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS
- BLEPHAROCHEILODONTIC SYNDROME
- ACROCEPHALOPOLYSYNDACTYLY TYPE II
- CRANIOORODIGITAL SYNDROME
- SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
- BRACHYDACTYLY, TYPE B1; BDB1
- LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
- KLEIN-WAARDENBURG SYNDROME
- HUMEROSPINAL DYSOSTOSIS
- HOLT-ORAM SYNDROME; HOS
- PROTEUS SYNDROME
- NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
- OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
- DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL
- SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
- SCHIZOPHRENIA 1; SCZD1
- CORNELIA DE LANGE SYNDROME 1; CDL1
- COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY
- ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1
- CAMPTOBRACHYDACTYLY
- SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
- THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT
- TIBIA, ABSENCE OF, WITH POLYDACTYLY
- AUROCEPHALOSYNDACTYLY
- AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
- ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
- ACRORENOOCULAR SYNDROME
- SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS
- PFEIFFER SYNDROME
- ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME
- POLYDACTYLY
- ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME
- SECOND METATARSAL-METACARPAL SYNDROME
- BARDET-BIEDL SYNDROME, TYPE 2; BBS2
- DELTA-7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7
- SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
- PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
- POLYSYNDACTYLY WITH CARDIAC MALFORMATION
- CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
- CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
- DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL
- AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
- POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES
- SIMPSON DYSMORPHIA SYNDROME; SDYS
- NEU-LAXOVA SYNDROME; NLS
- MICROCEPHALY WITH DIGITAL ANOMALIES
- SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION
- MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
- SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY
- RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
- DEFECT 11 CONTIGUOUS GENE SYNDROME
- ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET
- MECKEL SYNDROME; MKS
- SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED
- HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA
- HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME
- CRANIOFRONTONASAL SYNDROME; CFNS
- HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
- ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY
- LARSEN SYNDROME, RECESSIVE
- ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
- SUMMITT SYNDROME
- HETEROTOPIA, FAMILIAL NODULAR
- PARIETAL FORAMINA, SYMMETRIC; PFM
- HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME
- ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV
- PIERRE ROBIN SYNDROME
- CARNEY COMPLEX; CNC
- HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA
- MOHR SYNDROME
- CONSTRICTING BANDS, CONGENITAL
- FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
- POLYCYSTIC KIDNEYS
- EPIDERMOLYSIS BULLOSA LETALIS
- EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
- POLYDACTYLY, POSTAXIAL, TYPE A1
- ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE
- EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA
- POLYDACTYLY, PREAXIAL I
- POLYSYNDACTYLY, CROSSED
- FINGERPRINTS, ABSENCE OF
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
- OCULOFACIOCARDIODENTAL SYNDROME
- CLEFT PALATE, X-LINKED; CPX
- RUSSELL-SILVER SYNDROME; RSS
- DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM
- FACIOGENITAL DYSPLASIA; FGD1
- FG SYNDROME; FGS1
- JACKSON-WEISS SYNDROME; JWS
- MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA
- MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS
- CRANIOFRONTAL DYSPLASIA
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
- ACHEIROPODY
- DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
- CRANE-HEISE SYNDROME
- BARDET-BIEDL SYNDROME, TYPE 3; BBS3
- BARDET-BIEDL SYNDROME, TYPE 4; BBS4
- CAT EYE SYNDROME; CES
- FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE
- APLASIA CUTIS CONGENITA
- CRANIOECTODERMAL DYSPLASIA
- LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1
- ADACTYLIA, UNILATERAL
- PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES
- ACROCEPHALOPOLYSYNDACTYLY TYPE III
- PTERYGIUM SYNDROME
- PATCHED, DROSOPHILA, HOMOLOG OF; PTCH
- CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1
- CHOANAL ATRESIA, POSTERIOR; PCA
- CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT
- UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L
- HOMEO BOX D13; HOXD13
- BROAD TERMINAL PHALANGES, FAMILIAL
- ACROCALLOSAL SYNDROME; ACLS
- FORMIN; FMN
- ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY
- JAGGED 2; JAG2
- MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE
- MUENKE SYNDROME
- ACROCEPHALOPOLYSYNDACTYLY TYPE IV
- AARSKOG SYNDROME
Scoliosis
- SCOLIOSIS, IDIOPATHIC
- OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS
- RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION
- SHPRINTZEN OMPHALOCELE SYNDROME
- DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION
- SYNSPONDYLISM, CONGENITAL
- FIBRILLIN 1; FBN1
- CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
- FRIEDREICH ATAXIA 1; FRDA
- FRONTOMETAPHYSEAL DYSPLASIA
- METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE
- POSTERIOR COLUMN ATAXIA
- HEMIHYPERTROPHY
- NATRIURETIC PEPTIDE PRECURSOR B; NPPB
- NEUROFIBROMATOSIS, TYPE I; NF1
- BASAL CELL NEVUS SYNDROME; BCNS
- BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL
- DIASTROPHIC DYSPLASIA; DTD
- MARFAN SYNDROME; MFS
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- FRAGILE SITE MENTAL RETARDATION 1; FMR1
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
- MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II
- EHLERS-DANLOS SYNDROME, TYPE VI
- OSTEOGENESIS IMPERFECTA, TYPE I
- ASYMMETRIC SHORT STATURE SYNDROME
- CLEIDOCRANIAL DYSPLASIA; CCD
- COLLAGEN, TYPE I, ALPHA-1; COL1A1
- KABUKI SYNDROME
- BRACHYRACHIA
- COWDEN DISEASE; CD
- ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC
- AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
- NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS
- NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
- HOLOPROSENCEPHALY 2; HPE2
- FRYNS SYNDROME; FRNS
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
- GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
- NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
- NATIVE AMERICAN MYOPATHY
- MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
- CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE
- PROGEROID SHORT STATURE WITH PIGMENTED NEVI
- MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS
- CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION
- PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE
- CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D
- BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
- MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
- SPINAL DYSPLASIA, ANHALT TYPE
- AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
- SMITH-MAGENIS SYNDROME; SMS
- SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS
- AMINOPTERIN-LIKE SYNDROME SINE AMINOPTERIN
- OTOPALATODIGITAL SYNDROME
- EMERY-DREIFUSS MUSCULAR DYSTROPHY
- SYRINGOMYELIA
- TIBIAL TORSION, BILATERAL MEDIAL
- WHISTLING FACE-WINDMILL VANE HAND SYNDROME
- MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD
- SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED
- ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
- SPONDYLOCAMPTODACTYLY
- ASPARTYLGLUCOSAMINURIA
- SARCOGLYCAN, ALPHA; SGCA
- CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
- CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
- CUTIS LAXA WITH BONE DYSTROPHY
- DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE
- ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
- DYSAUTONOMIA, FAMILIAL; DYS
- ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS
- MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA
- MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
- CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY
- RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION
- PTERYGIUM SYNDROME
- PSEUDODIASTROPHIC DYSPLASIA
- HALL-RIGGS MENTAL RETARDATION SYNDROME
- MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA
- CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
- LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT
- MUSCULAR ATROPHY, PROGRESSIVE
- METATROPIC DWARFISM
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED
- SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM
- MENTAL RETARDATION, X-LINKED; DXS6673E
- MARINESCO-SJOGREN SYNDROME; MSS
- MEGALOCORNEA-MENTAL RETARDATION SYNDROME
- IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS
- CARTILAGE-HAIR HYPOPLASIA; CHH
- LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1
- LARSEN SYNDROME, RECESSIVE
- MARDEN-WALKER SYNDROME; MWS
- WILLIAMS-BEUREN SYNDROME; WBS
- ATAXIA-TELANGIECTASIA; AT
- MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
- NEURAMINIDASE DEFICIENCY
- OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
- MUCOPOLYSACCHARIDOSIS TYPE VII
- BRUCK SYNDROME
- PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD
- MARFANOID HYPERMOBILITY SYNDROME
- FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
- ACROGERIA
- SPONASTRIME DYSPLASIA
- FRONTONASAL DYSPLASIA
- FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
- VERTEBRAL ANOMALIES
- WEAVER SYNDROME
- WOLFF MENTAL RETARDATION SYNDROME
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
- MASTICATORY MUSCLES, HYPERTROPHY OF
- ALSTROM SYNDROME; ALMS1
- EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR
- METATROPIC DYSPLASIA, NONLETHAL DOMINANT
- CATEL-MANZKE SYNDROME
- CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED
- CLEFT PALATE, X-LINKED; CPX
- OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN
- FG SYNDROME; FGS1
- FOCAL DERMAL HYPOPLASIA; DHOF
- ENGELMANN DISEASE
- ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
- COLLAGEN, TYPE V, ALPHA-1; COL5A1
- FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
- METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
- MYOPATHY, CENTRONUCLEAR
- COLLAGEN, TYPE I, ALPHA-2; COL1A2
- MYELOCEREBELLAR DISORDER
- RIEGER SYNDROME, TYPE 1; RIEG1
- MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1
- CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
- SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
- POLYCYSTIC KIDNEYS
- GTP CYCLOHYDROLASE I; GCH1
- BIFID NOSE
- SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
- OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
- OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH
- RUVALCABA SYNDROME
- ROBINOW SYNDROME
- PSEUDOACHONDROPLASTIC DYSPLASIA
- PSEUDOACHONDROPLASTIC DYSPLASIA I
- MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA
- HYALURONIDASE DEFICIENCY
- ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA
- PARASTREMMATIC DWARFISM
- LATENT TRANSFORMING GROWTH FACTOR-BETA BINDING PROTEIN 2; LTBP2
- EARLY GROWTH RESPONSE 3; EGR3
- CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
- PRADER-WILLI SYNDROME; PWS
- PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
- PARAPLEGIN
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
- CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
Congenital Dislocation of the Hip
- HIP, DISLOCATION OF, CONGENITAL
- DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM
- COLLAGEN, TYPE I, ALPHA-2; COL1A2
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- CUTIS LAXA WITH BONE DYSTROPHY
- MUCOLIPIDOSIS II; ML2; ML II
- PSEUDOACHONDROPLASTIC DYSPLASIA
- CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
- LAMININ, BETA-1; LAMB1
- KOK DISEASE
- MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
- SHORT SYNDROME
- CUTIS LAXA
- SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
- PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD
- ANKYLOSING SPONDYLITIS; AS
- ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM
- LARSEN SYNDROME, RECESSIVE
- SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS
- EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
- INTEGRIN, ALPHA-7; ITGA7
- JOINT LAXITY, FAMILIAL
- GERODERMA OSTEODYSPLASTICA; GO
- CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL
- MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
- FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
- MUSCULAR DYSTROPHY, SCLEROATONIC
- BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
- SEPTOOPTIC DYSPLASIA
- LEGG-CALVE-PERTHES DISEASE
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1
- ANONYCHIA-ONYCHODYSTROPHY
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
- PELVISCAPULAR DYSPLASIA
Head and Neck
Cleft Lip
- OROFACIAL CLEFT 1; OFC1
- ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION
- CLEFT LIP, CONGENITAL HEALED
- ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME
- ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
- CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP
- CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES
- ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE
- ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1
- ROBERTS SYNDROME; RBS
- CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
- ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
- BLEPHAROCHEILODONTIC SYNDROME
- CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE
- POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
- COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION
- VARADI-PAPP SYNDROME
- MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
- CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY
- LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
- CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
- ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY
- KAPUR-TORIELLO SYNDROME
- IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
- ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2
- RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE
- CRANE-HEISE SYNDROME
- BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING
- CLEFT PALATE; CP
- ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE
- CLEFT PALATE, X-LINKED; CPX
- OROFACIAL CLEFT 2; OFC2
- CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY
- HOLOPROSENCEPHALY 2; HPE2
- OROFACIAL CLEFT 3; OFC3
- ECTRODACTYLY-CLEFT PALATE SYNDROME
- GENITOPALATOCARDIAC SYNDROME
- PALANT CLEFT PALATE SYNDROME
- SPLIT LOWER LIP
- HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
- SIMPSON DYSMORPHIA SYNDROME; SDYS
- HOLZGREVE SYNDROME
- ECTODERMAL DYSPLASIA, TYPE 4; ED4
- OCULOCEREBROCUTANEOUS SYNDROME
- OROFACIODIGITAL SYNDROME 1; OFD1
- HOLOPROSENCEPHALY 1, ALOBAR; HPE1
- BASAL CELL NEVUS SYNDROME; BCNS
- CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
- WAARDENBURG SYNDROME, TYPE I; WS1
- SHORT RIB SYNDROME, BEEMER TYPE
- WALKER-WARBURG SYNDROME
- CHOANAL ATRESIA, POSTERIOR; PCA
- PALLISTER W SYNDROME
- ANOPHTHALMIA-PLUS SYNDROME
- FEMORAL-FACIAL SYNDROME; FFS
- FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
- CAT EYE SYNDROME; CES
- BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
- SAO PAULO MCA/MR SYNDROME
- MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP
- ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA
- POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II
- STICKLER SYNDROME, TYPE I; STL1
- CONSTRICTING BANDS, CONGENITAL
- STEINFELD SYNDROME
- OPITZ SYNDROME
- DIGEORGE SYNDROME; DGS
- DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
- DISORGANIZATION, MOUSE, HOMOLOG OF
- NAIL-PATELLA SYNDROME; NPS
- PETERS ANOMALY WITH SHORT-LIMB DWARFISM
- KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC
- OSTEOPATHIA STRIATA WITH CR
Cleft Palate
- OROFACIAL CLEFT 1; OFC1
- CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED
- CLEFT PALATE, ISOLATED; CPI
- OROFACIAL CLEFT 11; OFC11
- RAPP-HODGKIN SYNDROME; RHS
- SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
- CLEFT PALATE, X-LINKED; CPX
- OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
- BLEPHAROCHEILODONTIC SYNDROME
- OROFACIAL CLEFT 2; OFC2
- OROFACIAL CLEFT 5; OFC5
- SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 OROFACIAL CLEFT 10, INCLUDED; OFC10, INCLUDED
- HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
- OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL
- OROFACIAL CLEFT 3; OFC3
- OROFACIAL CLEFT 12; OFC12
- ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
- OROFACIAL CLEFT 4
- OROFACIAL CLEFT 9
- ACROFRONTOFACIONASAL DYSOSTOSIS 1
Pierre Robin Syndrome
- PIERRE ROBIN SYNDROME
- PIERRE ROBIN SYNDROME AND OLIGODACTYLY
- PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT
- CATEL-MANZKE SYNDROME
- WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
- STICKLER SYNDROME, TYPE I; STL1
- MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
- CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
- HYALOIDEORETINAL DEGENERATION OF WAGNER
- VELOCARDIOFACIAL SYNDROME
- ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE
- PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
- MARSHALL SYNDROME
- CEREBROCOSTOMANDIBULAR SYNDROME
- STICKLER SYNDROME, TYPE II; STL2
- COLLAGEN, TYPE XI, ALPHA-2; COL11A2
- ANOPHTHALMIA AND PULMONARY HYPOPLASIA
- COLLAGEN, TYPE II, ALPHA-1; COL2A1
- HEMOGLOBIN--BETA LOCUS; HBB
- EAR MALFORMATION
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
- ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM
- ENDOTHELIN 1; EDN1
Urogenital
Kidney
- Prune Belly Syndrome
- Multicystic Renal Dysplasia
- Polycystic Kidneys
- Urogenital Adysplasia
- Wilms Tumor 1
- Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness
- Exstrophy of Bladder
Gonad
- SEX REVERSAL, AUTOSOMAL, 2; SRA2
- CRYPTORCHIDISM, UNILATERAL OR BILATERAL
- XX MALE SYNDROME
- GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
- GONADOBLASTOMA; GBY
- OVARIAN GERM CELL CANCER
- H-Y ANTIGEN RECEPTOR
- SEX-DETERMINING REGION Y; SRY
- DELETED IN AZOOSPERMIA-LIKE; DAZL
- SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
- WILMS TUMOR 1; WT1
- FRASIER SYNDROME
- 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A REDUCTASE; HMGCR
- FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
- WILMS TUMOR AND PSEUDOHERMAPHRODITISM
- ANTI-MULLERIAN HORMONE; AMH
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
Gastrointestinal Tract
Hirschsprung Disease
- [http://omim.org/entry/142623 HIRSCHSPRUNG DISEASE
- [http://omim.org/entry/277580 WAARDENBURG-SHAH SYNDROME
- [http://omim.org/entry/209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
- HIRSCHSPRUNG DISEASE 3
- [http://omim.org/entry/600155 HIRSCHSPRUNG DISEASE 2; HSCR2
- HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA
- HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES
- HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
- HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY
- HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT
- HIRSCHSPRUNG DISEASE WITH BILATERAL BICOLORED IRIDES
- RET PROTOONCOGENE; RET
- ENDOTHELIN RECEPTOR, TYPE B; EDNRB
- ENDOTHELIN 3; EDN3
- GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF
- SRY-BOX 10; SOX10
- WAARDENBURG SYNDROME, TYPE I; WS1
- [http://omim.org/entry/193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A
- NEURTURIN; NRTN
- ENDOTHELIN-CONVERTING ENZYME 1; ECE1
- L1 CELL ADHESION MOLECULE; L1CAM
- INTEGRIN, BETA-2; ITGB2
- [http://omim.org/entry/155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1
- INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
- [http://omim.org/entry/172800 PIEBALD TRAIT; PBT
- BARDET-BIEDL SYNDROME, TYPE 2; BBS2
- [http://omim.org/entry/115470 CAT EYE SYNDROME; CES
- CARTILAGE-HAIR HYPOPLASIA; CHH
- [http://omim.org/entry/190685 TRISOMY 21
- MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA
- OSTEOPETROSIS, AUTOSOMAL RECESSIVE
- DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA
- MCKUSICK-KAUFMAN SYNDROME; MKKS
- [http://omim.org/entry/268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
- [http://omim.org/entry/270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I
- CORPUS CALLOSUM, PARTIAL AGENESIS OF
- GDNF FAMILY RECEPTOR ALPHA-1; GFRA1
- ASPLENIA WITH CARDIOVASCULAR ANOMALIES
- AGANGLIONOSIS, TOTAL INTESTINAL
- [http://omim.org/entry/171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
- [http://omim.org/entry/171300 PHEOCHROMOCYTOMA
- [http://omim.org/entry/162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS
- MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF
- ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
- NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B
- DISORGANIZATION, MOUSE, HOMOLOG OF
- [http://omim.org/entry/148820 KLEIN-WAARDENBURG SYNDROME
- DUANE SYNDROME
- DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM
Coelomic Cavity
Diaphragmatic Hernia
- HERNIA, DIAPHRAGMATIC
- FRYNS SYNDROME; FRNS
- HERNIA, ANTERIOR DIAPHRAGMATIC
- DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS
- EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA
- DIAPHRAGM, UNILATERAL AGENESIS OF
- DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT
- CORNELIA DE LANGE SYNDROME 1; CDL1
- SIMPSON DYSMORPHIA SYNDROME; SDYS
- WILMS TUMOR AND PSEUDOHERMAPHRODITISM
- THORACOABDOMINAL SYNDROME; THAS
- EHLERS-DANLOS SYNDROME, TYPE I; EDS1
- BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES
- RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM
- PELGER-HUET ANOMALY
- ANENCEPHALY
- WOLF-HIRSCHHORN SYNDROME; WHS
- RENIN; REN
- MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS
- FERRITIN HEAVY CHAIN 1; FTH1
- CRANIOFRONTONASAL SYNDROME; CFNS
- FOCAL DERMAL HYPOPLASIA; DHOF
- LAMININ, BETA-1; LAMB1
- CUTIS LAXA
- AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
- PULMONARY HYPOPLASIA
- ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
- LARSEN SYNDROME, RECESSIVE
- C SYNDROME
- CRANIOFRONTAL DYSPLASIA
- CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE
- PALLISTER-KILLIAN SYNDROME; PKS
Respiratory
Respiratory System - Abnormalities
- HERNIA, DIAPHRAGMATIC
- V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1
- SMALL CELL CANCER OF THE LUNG; SCCL
- CANCER OF LUNG
- PHOSPHOLIPASE C, EPSILON; PLCE
- CYSTIC DISEASE OF LUNG
- TUMOR SUPPRESSOR GENE ON CHROMOSOME 11
- LUNG AGENESIS
- HEPATOCYTE GROWTH FACTOR; HGF
- THYMIC-RENAL-ANAL-LUNG DYSPLASIA
- LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR
- RUTLEDGE LETHAL MULTIPLE
- ANOMALY SYNDROME
- TUMOR PROTEIN p53; TP53
- PROTEASE INHIBITOR 1; PI
- V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
- CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
- CYSTIC FIBROSIS; CF
- CYTOCHROME P450, SUBFAMILY IID; CYP2D
- CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1
- LI-FRAUMENI SYNDROME; LFS
- V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS
- RETINOBLASTOMA; RB1
- THYROID HORMONE RECEPTOR, BETA; THRB
- PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B
- SYNDECAN 2; SDC2
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
- UBIQUITIN-SPECIFIC PROTEASE 4; USP4
- PULMONARY ALVEOLAR PROTEINOSIS
- UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L
- ACYLPEPTIDE HYDROLASE; APH
- FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5
- KARTAGENER SYNDROME
- PROTEIN TYROSINE KINASE TKF
- N-ACETYLTRANSFERASE 1; NAT1
- DEFENSIN, BETA-1; DEFB1
- SONIC HEDGEHOG, DROSOPHILA, HOMOLOG OF; SHH
- FRYNS SYNDROME; FRNS
- TUBEROUS SCLEROSIS 2; TSC2
- TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1
- FIBROBLAST GROWTH FACTOR 10; FGF10
- ALPHA-1-ANTICHYMOTRYPSIN; AACT
- FIBROCYSTIC PULMONARY DYSPLASIA
- GASTRIN-RELEASING POLYPEPTIDE; GRP
- 243700 JOB SYNDROME
- PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP
- TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B
- GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI
- SOMATOSTATIN RECEPTOR 2; SSTR2
- CARBONIC ANHYDRASE IV; CA4
- CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
- ALPHA-2-MACROGLOBULIN; A2M
- AMINOACYLASE 1; ACY1
- SEMAPHORIN A-V
- PLASMINOGEN; PLG
- SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD
- HYALURONOGLUCOSAMINIDASE 2; HYAL2
- MESOTHELIOMA, MALIGNANT
- CHEMOKINE (C-C) RECEPTOR 1; CMKBR1
- EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4
- GLUTATHIONE S-TRANSFERASE, MU 1; GSTM1
- PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE
- SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA; SCNN1A
- RETICULON 1; RTN1
- SEMAPHORIN III/F; SEMA3F
- PARATHYROID HORMONE-LIKE HORMONE; PTHLH
- CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1
- COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1
- THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING
- HEMOGLOBIN--ALPHA LOCUS 1; HBA1
- MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP
- RAS p21 PROTEIN ACTIVATOR 1; RASA1
- EPHRIN RECEPTOR EphB2; EPHB2
- TRANSCRIPTION FACTOR 21; TCF21
- EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G
- PULMONARY FIBROSIS, IDIOPATHIC
- FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6
- CADHERIN 13; CDH13
- HERMANSKY-PUDLAK SYNDROME; HPS
- QUIESCIN Q6; QSCN6
- SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB
- DEFENSIN, BETA-2; DEFB2
- BREAST CANCER, TYPE 1; BRCA1
- ZINC FINGER PROTEIN 35; ZNF35
- MACROGLOBULINEMIA, WALDENSTROM; WM
- TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1
- TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
- ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2
- PHOSPHOLIPASE A2, GROUP IB; PLA2G1B
- ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY
- INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2
- CYTOKINE-INDUCIBLE KINASE; CNK
- FOS-INDUCED GROWTH FACTOR; FIGF
- CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4
- CANCER
- INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D
- GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB
- CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA
- CARCINOID, INTESTINAL
- ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
- GLUTATHIONE PEROXIDASE 3; GPX3
- ENDOTHELIAL CELL-SPECIFIC MOLECULE-1
- CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
- TRACHEAL ANTIMICROBIAL PEPTIDE
- THORACOABDOMINAL SYNDROME; THAS
- FICOLIN 1; FCN1
- TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1
- CEREBRAL GIGANTISM
- PALLISTER-HALL SYNDROME; PHS
- B5T OVEREXPRESSED GENE
- HYDROLETHALUS SYNDROME
- HODGKIN DISEASE
- INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA
- EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC
- FRAGILE HISTIDINE TRIAD GENE; FHIT
- CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2
- ENDOTHELIN RECEPTOR, TYPE B; EDNRB
- CATHEPSIN S; CTSS
- EMPHYSEMA, CONGENITAL LOBAR; CLE
- CAMPOMELIA, CUMMING TYPE
- LEUKOTRIENE A4 HYDROLASE; LTA4H
- TETRA-AMELIA WITH PULMONARY HYPOPLASIA
- ASPHYXIATING THORACIC DYSTROPHY; ATD
- MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS
- ACROCEPHALOPOLYDACTYLOUS DYSPLASIA
- THYROID TRANSCRIPTION FACTOR 1; TITF1
- HEMOGLOBIN--BETA LOCUS; HBB
- ARGININE VASOPRESSIN; AVP
- 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1
- BOMBESIN-LIKE RECEPTOR 3; BRS3
- NEUROKININ 3 RECEPTOR; NK3R
- PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG
- PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF
- TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3
- MUCOEPITHELIAL DYSPLASIA, HEREDITARY
- SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
- NEUROFIBROMATOSIS, TYPE I; NF1
- TACHYKININ 1 RECEPTOR; TACR1
- V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
- OXYTOCIN--NEUROPHYSIN I; OXT
- RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC
- SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3
- HEME OXYGENASE 2; HMOX2
- GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF
- MACROPHAGE STIMULATING 1; MST1
- NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS
- EPIMORPHIN; EPIM
- MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD
- LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
- CREATINE KINASE, BRAIN TYPE; CKB; CKBB
- FIBRILLIN 1; FBN1
- EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4
- COLLAGEN, TYPE I, ALPHA-1; COL1A1
- CHROMOGRANIN A; CHGA
- CANCER OF THE BREAST, FAMILIAL; BCS
- GLUTATHIONE S-TRANSFERASE, PI; GSTP1
- CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA
- TOPOISOMERASE, DNA, II, ALPHA; TOP2A
- BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME
- BETA-2-ADRENERGIC RECEPTOR; ADRB2
- PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT
- BASAL CELL NEVUS SYNDROME; BCNS
- PNEUMOTHORAX, SPONTANEOUS
- POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION
- SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1
- ACHONDROPLASIA; ACH
- ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1
- MELANOMA, MALIGNANT
- SUBAORTIC STENOSIS--SHORT STATURE SYNDROME
- GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1
- MACROPHAGE STIMULATING 1 RECEPTOR; MST1R
- LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2
- VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED
- ARGININE-RICH PROTEIN
- EPHRIN RECEPTOR EphA2; EPHA2
- SPINAL MUSCULAR ATROPHY I; SMA1
- MUCUS INSPISSATION OF RESPIRATORY TRACT
- MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1
- PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL
- LICHTENSTEIN SYNDROME
- RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB
- SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1
- SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19
- LAMININ, ALPHA-4; LAMA4
- ZINC FINGER PROTEIN 195; ZNF195
- EPHRIN RECEPTOR EphA1; EPHA1
- RECOVERIN; RCV1
- CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
- RHEUMATOID ARTHRITIS
- MATRIX METALLOPROTEINASE 15; MMP15
- HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS
- G PROTEIN-COUPLED RECEPTOR 30; GPR30
- HYALURONIDASE DEFICIENCY
- ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1
- CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
- PHOSPHOLIPASE A2, GROUP X; PLA2G10
- PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1
- EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3
- S100 CALCIUM-BINDING PROTEIN A11; S100A11
- BRCA1-ASSOCIATED PROTEIN 1; BAP1
- EPHRIN B2; EFNB2
- PENA-SHOKEIR SYNDROME, TYPE I
- JOHANSON-BLIZZARD SYNDROME; JBS
- BRADYKININ RECEPTOR B1; BDKRB1
- THROMBOSPONDIN I; THBS1
- GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4
- IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA
- IMMOTILE CILIA SYNDROME 1; ICS1
- EPITHELIAL MEMBRANE PROTEIN 2; EMP2
- LIM DOMAIN KINASE 2; LIMK2
- FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE
- CHEMOKINE (C-C) RECEPTOR 6; CMKBR6
- GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2
- X-PROLYL AMINOPEPTIDASE 2; XPNPEP2
- SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3
- SEMAPHORIN IV
- FANCONI-LIKE SYNDROME
- GROWTH/DIFFERENTIATION FACTOR 10; GDF10
- LAMININ, ALPHA-5; LAMA5
- RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA
- UTEROGLOBIN; UGB
- VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1
- ECZEMA, ATOPIC
- TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12; TNFRSF12
- DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1
- YOUNG SYNDROME
- MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3
- HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A
- VATER ASSOCIATION
- LONG QT SYNDROME, TYPE 1
- INTEGRIN, ALPHA-2; ITGA2
- WHIM SYNDROME
- NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1
- MARFAN-LIKE CONNECTIVE TISSUE DISORDER
- ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES
- GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP
- AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS
- BRONCHIECTASIS
- ARACHIDONATE 5-LIPOXYGENASE; ALOX5
- MICROSEMINOPROTEIN, BETA; MSMB
- CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
- MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2
- LYSOZYME; LYZ
- LAMININ, GAMMA-2; LAMC2
- TROPOMODULIN; TMOD
- COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
- LAMININ, BETA-1; LAMB1
- TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1
- MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1
- N-ACETYLGLUCOSAMINE RECEPTOR, THYROID
- NEUROMEDIN B RECEPTOR; NMBR
- NEUROPEPTIDE Y RECEPTOR Y3; NPY3R
- TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
- GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I
- NITRIC OXIDE SYNTHASE 3; NOS3
- OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2
- LYMPHEDEMA, HEREDITARY II
- INTEGRIN, BETA-5; ITGB5
- THYROTROPH EMBRYONIC FACTOR; TEF
- HYPERPROLINEMIA, TYPE I
- V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES
- V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1
- E2F TRANSCRIPTION FACTOR 1; E2F1
187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]
- TETRANECTIN; TNA
- ASPLENIA WITH CARDIOVASCULAR ANOMALIES
- LARSEN-LIKE SYNDROME, LETHAL TYPE
- LETTERER-SIWE DISEASE
- SOLUTE CARRIER FAMILY 6, MEMBER 6; SLC6A6
- WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
- BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION
- CLUSTERIN; CLU
- SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1
- [http://omim.org/entry/256450 NESIDIOBLASTOSIS OF PANCREAS
- NEU-LAXOVA SYNDROME; NLS
- GLI-KRUPPEL FAMILY MEMBER 3; GLI3
- BLOOM SYNDROME; BLM
- BRUCK SYNDROME
- LEUKEMIA, CHRONIC LYMPHATIC; CLL
- HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; FIHP
- PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
- RENAL CELL CARCINOMA 1; RCC1
- PULMONARY CYSTIC LYMPHANGIECTASIS
- PULMONARY HYPOPLASIA
- DESMOGLEIN 3; DSG3
- MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1
- HEXOKINASE 3; HK3
- SOMATOSTATIN RECEPTOR 4; SSTR4
- LECTIN, BETA-GALACTOSIDE BINDING, SOLUBLE, 1; LGALS1
- THYMIC APLASIA WITH FETAL DEATH
- GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5
- P-GLYCOPROTEIN 1; PGY1
- CYSTINOSIS, NEPHROPATHIC; CTNS
- MEMBRANE COMPONENT, CHROMOSOME 1, SURFACE MARKER 1; M1S1
- FOLATE RECEPTOR 1, ADULT; FOLR1
- PROTEIN KINASE C, IOTA FORM; PRKCI
- FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
- MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2
- GS2 GENE; DXS1283E
- APICAL PROTEIN, XENOPUS LAEVIS-LIKE; APXL
- FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
- ATP-BINDING CASSETTE 7; ABC7
- PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C
- FARBER LIPOGRANULOMATOSIS
- THYMOSIN, BETA 4, X CHROMOSOME; TMSB4X
- HEPHAESTIN
- SOLUTE CARRIER FAMILY 6, MEMBER 4; SLC6A4
- FIBROBLAST GROWTH FACTOR 7; FGF7
- CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1
- SECRETIN RECEPTOR; SCTR
- GOODPASTURE SYNDROME
- HETEROTAXY, VISCERAL, X-LINKED
- WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2
- GRANULOMATOUS DISEASE DUE TO COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS
- LYMPHOPROLIFERATIVE SYNDROME
- PHOSPHOGLYCERATE MUTASE 1; PGAM1
- ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1
- TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6
- PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10
- PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5
- INSULINOMA-ASSOCIATED 1; IA1
- POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A
- PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A
- SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2
- HEMANGIOPERICYTOMA, MALIGNANT
- HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY
- PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1
- ADENOMATOUS POLYPOSIS OF THE COLON; APC
- HYPERLIPOPROTEINEMIA, TYPE I
- BREAST CANCER 2, EARLY-ONSET; BRCA2
- FATTY ACID SYNTHASE; FASN
- ENDOTHELIN 3; EDN3
- G PROTEIN-COUPLED RECEPTOR 3; GPR3
- PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13
- INHIBITOR OF DNA BINDING 3; ID3
- NUCLEOTIDE-BINDING PROTEIN; NBP
- HYPOTHALAMIC HAMARTOMAS
- PERICENTRIOLAR MATERIAL 1; PCM1
- AQUAPORIN 4; AQP4
- ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
- INSECT STINGS, HYPERSENSITIVITY TO
- ZINC FINGER PROTEIN 144; ZNF144
- UPSTREAM STIMULATORY FACTOR 2; USF2
- ETS-RELATED PROTEIN; ERP
- PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR, DELTA; PPARD
- AQUAPORIN 5; AQP5
- INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R
- ALDEHYDE DEHYDROGENASE 7; ALDH7
- ENDOTHELIN 1; EDN1
- PROHIBITIN; PHB
- SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC
- MESENCHYME HOMEO BOX 2; MEOX2
- G PROTEIN-COUPLED RECEPTOR 4; GPR4
- PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO
- MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7; MCM7
- EHLERS-DANLOS SYNDROME, PROGEROID FORM
- MUCOPOLYSACCHARIDOSIS TYPE I; MPS I
- SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1
- PULMONARY HEMOSIDEROSIS
- DYSTONIA 1, TORSION; DYT1
- SULFOTRANSFERASE, MONOAMINE-PREFERRING; STM
- FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2
- POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2
- PULMONARY HYPERTENSION, PRIMARY; PPH1
- 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1
- NIEMANN-PICK DISEASE
- PALMITOYL-PROTEIN THIOESTERASE; PPT
- NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
- T-BOX 2; TBX2
- NEUROBLASTOMA; NB
- SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA; SCNN1B
- SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA; SCNN1G
- SYNAPTOTAGMIN 5; SYT5
- GRANZYME K; GZMK
- TRANSGELIN; TAGLN
- ZINC FINGER PROTEIN 165; ZNF165
- PROLYLCARBOXYPEPTIDASE; PRCP
- OSTEOPETROSIS, AUTOSOMAL RECESSIVE
- ERYTHROCYTE MEMBRANE PROTEIN BAND 49; EPB49
- PROGRAMMED CELL DEATH 2; PDCD2
- MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA
- LYMPHOTOXIN B RECEPTOR; LTBR
- CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1
- RIBONUCLEASE A FAMILY, 4; RNASE4
- GROWTH ARREST-SPECIFIC 1; GAS1
- CAVEOLIN 1; CAV1
- PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 2; PDNP2
- VILLIN 2; VIL2
- SRC-LIKE ADAPTOR; SLA
- BB1 GENE
- CLPP PROTEASE
- S100 CALCIUM-BINDING PROTEIN A8; S100A8
- CORTICOTROPIN-RELEASING HORMONE; CRH
- DEFENSIN, ALPHA 4; DEFA4
- CORTICOSTEROID-BINDING GLOBULIN; CBG
- LISSENCEPHALY SYNDROME TYPE III
- DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3
- ANOPHTHALMIA AND PULMONARY HYPOPLASIA
- PHOSPHOLIPASE A2, GROUP V; PLA2G5
- PLEUROPULMONARY BLASTOMA
- HISTONE DEACETYLASE 1; HDAC1
- COLLAGEN, TYPE XV, ALPHA-1; COL15A1
- ALAGILLE SYNDROME; AGS
- WILSON DISEASE
- ACTIVIN A RECEPTOR, TYPE IB; ACVR1B
- PATCHED, DROSOPHILA, HOMOLOG OF; PTCH
- RENAL DYSPLASIA, DIFFUSE CYSTIC
- CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2
- MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY
- CELL DIVISION CYCLE 25A; CDC25A
- MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1
- CATHEPSIN B; CTSB
- DISHEVELLED 1; DVL1
- PUTATIVE PROSTATE CANCER TUMOR SUPPRESSOR
- G PROTEIN-COUPLED RECEPTOR, OVARIAN CANCER, 1; OGR1
- TRANSCRIPTION ELONGATION FACTOR A (SII), 1; TCEA1
- UBIQUITIN-SPECIFIC PROTEASE 5; USP5
- SOLUTE CARRIER FAMILY 21, MEMBER 2; SLC21A2
- LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5
- SYNTAXIN 1B; STX1B
- ANGIOKERATOMA, DIFFUSE
- SEC14 (S. CEREVISIAE)-LIKE; SEC14L
- CATENIN, ALPHA-1; CTNNA1
- GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14
- CHONDROCYTE PROTEIN YKL39
- WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A
- [http://omim.org/entry/114500 CANCER OF COLON
- PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4
- PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2
- CAMPOMELIC DYSPLASIA
- ATP-BINDING CASSETTE 3; ABC3
- SOX18, MOUSE, HOMOLOG OF
- T-BOX 5; TBX5
- HYALURONAN SYNTHASE 2; HAS2
- CYTOCHROME P450, 51; CYP51
- GATA-BINDING PROTEIN 6; GATA6
- RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2
- PROTEASE INHIBITOR 8, OVALBUMIN TYPE; PI8
- SYNTAXIN-BINDING PROTEIN 2; STXBP2
- APOPTOSIS INHIBITOR 2; API2
- BIGLYCAN; BGN
- PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9
- COLLAGEN, TYPE IV, ALPHA-6; COL4A6
- MATRIX METALLOPROTEINASE 18; MMP18
- SPONDYLOSPINAL THORACIC DYSOSTOSIS
- GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR
- PROLINE ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP
- EPHRIN RECEPTOR EphA8; EPHA8
- FEMORAL-FACIAL SYNDROME; FFS
- GDNF FAMILY RECEPTOR ALPHA-2; GFRA2
- WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B
- RIBONUCLEASE A FAMILY, 6; RNASE6
- CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-2/DELTA SUBUNIT; CACNA2
- ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72
- S100 CALCIUM-BINDING PROTEIN A13; S100A13
- CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR
- ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE; EMAPL
- GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58
- PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B
- CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB
- S100 CALCIUM-BINDING PROTEIN A10; S100A10
- IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR
- PBX/KNOTTED 1 HOMEO BOX 1; PKNOX1
- POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15
- C5a ANAPHYLATOXIN RECEPTOR; C5AR
- DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1
- PROSTAGLANDIN I2 RECEPTOR; PTGIR
- TUMOR-SUPPRESSING SUBTRANSFERABLE CANDIDATE 3; TSSC3
- PHOSPHOLIPASE C, DELTA 1; PLCD1
- LIM HOMEO BOX PROTEIN 4
- BAGPIPE HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1
- PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC
- BRADYKININ RECEPTOR B2; BDKRB2
- MELANOMA ASSOCIATED GENE 50; MG50; D2S448
- GUANINE NUCLEOTIDE-BINDING PROTEIN GP1
- MALIGNANT ATROPHIC PAPULOSIS
- GUT-ENRICHED KRUPPEL-LIKE FACTOR
- AQUAPORIN 3; AQP3
- MATRIX METALLOPROTEINASE 16; MMP16
- MATRIX METALLOPROTEINASE 19; MMP19
- HUMAN ENHANCER OF FILAMENTATION 1
- TRANSCRIPTION FACTOR 4; TCF4
- G PROTEIN-COUPLED RECEPTOR, ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2
- FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 13; FKHL13
- SOLUTE CARRIER FAMILY 7, MEMBER 5; SLC7A5
- EPHRIN B3; EFNB3
- AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP
- RIBOSOMAL PROTEIN L23A; RPL23A
- ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE
- EPITHELIAL MEMBRANE PROTEIN 3; EMP3
- NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 1; NTRKR1
- CATHEPSIN C; CTSC
- PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1
- PHOSPHOLIPASE D2, PHOSPHATIDYLCHOLINE-SPECIFIC
- ANNEXIN VIII; ANX8
- BONE MORPHOGENETIC PROTEIN 5; BMP5
- GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR
- CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH
- A KINASE ANCHOR PROTEIN, 149-KD
- REGENERATION-ASSOCIATED SERPIN-1
- POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3
- GAP-ASSOCIATED TYROSINE PHOSPHOPROTEIN, 62-KD
- SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 23; SCYA23
- PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM
- ZIPPER PROTEIN KINASE; ZPK
- REGULATOR OF G PROTEIN SIGNALING 12; RGS12
- REGULATOR OF G PROTEIN SIGNALING 14
- REGULATOR OF G PROTEIN SIGNALING 7; RGS7
- UBIQUITIN-SPECIFIC PROTEASE 7; USP7
- PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2
- BLOOD GROUP--DUFFY SYSTEM; Fy
- EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION
- LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1
- SOLUTE CARRIER FAMILY 22, MEMBER 1; SLC22A1
- ANTIQUITIN; ATQ1
- GLIOMA PATHOGENESIS-RELATED PROTEIN
- ANGIOTENSIN RECEPTOR 1; AGTR1
- ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B
- TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14
- POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4
- COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3
- GROWTH ARREST-SPECIFIC 2; GAS2
- TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7
- NEUROBLASTOMA TUMOR SUPPRESSOR GENE DAN; D1S1733E
- SOLUTE CARRIER FAMILY 21, MEMBER 3; SLC21A3
- AMILORIDE-BINDING PROTEIN 1; ABP1
- CLAUDIN 4; CLDN4
- CLAUDIN 3; CLDN3
- ALCOHOL DEHYDROGENASE 2; ADH2
- AQUAPORIN 9; AQP9
- LOSS OF HETEROZYGOSITY, 11, CHROMOSOMAL REGION 2, GENE A; LOH11CR2A
- THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6
- FATTY ACID AMIDE HYDROLASE; FAAH
- SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 22; SCYA22
- PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2
- DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2
- PHOSPHODIESTERASE 1C; PDE1C
- CADHERIN 6; CDH6
- CADHERIN 17; CDH17
- CADHERIN 18; CDH18
- PLEOMORPHIC ADENOMA GENE 1; PLAG1
- ADRENOMEDULLIN; ADM
- WHITE, DROSOPHILA, HOMOLOG OF
- KANGAI 1; KAI1
- DIPEPTIDYLPEPTIDASE IV; DPP4
- LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP
- ADENOSINE DEAMINASE; ADA
- T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA
- RAB8-INTERACTING PROTEIN; RAB8IP
- POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2
- ADDUCIN 1; ADD1
- CANCER OSAKA THYROID ONCOGENE; COT
- PROTEIN-TYROSINE PHOSPHATASE D1
- REGULATOR OF G PROTEIN SIGNALING 5; RGS5
- ADAMANTINOMA OF LONG BONES
- VERY LONG-CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN
- DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5
- ACTIVIN A RECEPTOR, TYPE I; ACVR1
- DERMATOPONTIN; DPT
- FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1
- FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6
- FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7
- ADP-RIBOSYLATION FACTOR-LIKE 1; ARL1
- ZINC FINGER PROTEIN 202; ZNF202
- PROTEIN KINASE KKIAMRE
- CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE
- ALDEHYDE DEHYDROGENASE 3; ALDH3
- B-CELL CLL/LYMPHOMA 10; BCL10
- CATHEPSIN F; CTSF
- SITUS INVERSUS VISCERUM
- ACANTHOSIS NIGRICANS
- TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C
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Cite this page: Hill, M.A. (2024, June 15) Embryology OMIM References. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/OMIM_References
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G