OMIM References: Difference between revisions
From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS] | ||
====Congenital Dislocation of the Hip==== | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142700 HIP, DISLOCATION OF, CONGENITAL] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219200 CUTIS LAXA WITH BONE DYSTROPHY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252500 MUCOLIPIDOSIS II; ML2; ML II] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150240 LAMININ, BETA-1; LAMB1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149400 KOK DISEASE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269880 SHORT SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219100 CUTIS LAXA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106300 ANKYLOSING SPONDYLITIS; AS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600536 INTEGRIN, ALPHA-7; ITGA7] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147900 JOINT LAXITY, FAMILIAL] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231070 GERODERMA OSTEODYSPLASTICA; GO] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251450 MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254090 MUSCULAR DYSTROPHY, SCLEROATONIC] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182230 SEPTOOPTIC DYSPLASIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150600 LEGG-CALVE-PERTHES DISEASE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107000 ANONYCHIA-ONYCHODYSTROPHY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260660 PELVISCAPULAR DYSPLASIA] | |||
== 1999 OMIM Pages == | == 1999 OMIM Pages == | ||
Revision as of 11:30, 23 March 2010
Introduction
There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes and 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.
About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM
Links: OMIM | Citing OMIM?
Page Links
- Week 1 | Fertilization | Spermatozoa Motility | Spermatozoa
- Cardiovascular | Tetralogy of Fallot] | Atrial Septal Defect
- Musculoskeletal | Muscular Dystrophy | Syndactyly | Scoliosis
2010 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
1999 OMIM Pages
In 1999 I searched the Online Mendelian Inheritence in Man (OMIM) database and selected a small number of references for each topic. These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.
These pages retain the original earlier site (Version 3) page layout.
Week 1
- Fertilization- List Select
- Sperm List- Select
- Sperm Motility List- Select
- 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
- Fertilization List- Select
- Sperm List-Select
- Sperm Motility List- Select
- 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
Week 2
Week 3
Abnormal Development
Neural
Cardiovascular
- Tetralogy of Fallot List- Select
- Patent Ductus Arteriosus List- Select
- Heart List-Select
- Atrial Septal Defect List- Select
- Atrial Septal Defect
- Patent Ductus Arteriosus
- Tetralogy of Fallot
- Bundle Branch Block
Musculoskeletal
- Dystrophin-Associated Glycoprotein1; DAG1
- Hip, Dislocation of, Congenital
- Syndactyly, Type I
- Syndactyly, Type II
- Syndactyly, Type III
- Syndactyly, Type IV
- Syndactyly, Type V
- Myotonic Dystrophy
- Arthrogryposis Syndrome List- Select
- Muscular Dystrophy List- Select
- Congenital Dystrophy List- Select
- Scoliosis List- Select
- Syndactly List- Select
Gastrointestinal
- Hirschsprung Disease
- Volvulus of Midgut
- Hirschsprung Disease 2
- Gastrointestinal Abnormalities Multiple
- Select Entries
Head and Neck
- Orofacial Cleft 1; OFC1
- Ear Malformation
- Pierre Robin Syndrome and Oligodactyly
- Pierre Robin Syndrome
- Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot
- Cleft Lip List- Select
- Pierre Robin Syndrome List- Select
Coelomic Cavity
Respiratory
- Lung List- Select
- Emphysema, Congenital Lobar; CLE
- Oculodigitoesophagoduodenal Syndrome
- Tracheoesophageal Fistula
Neural Crest
Senses
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
- XX Male Syndrome
- Gonadal Dysgenesis, XY Female Type; GDXY
- Gonadoblastoma; GBY
- Ovarian Germ Cell Cancer
- Gonad List- Select
