OMIM References

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?

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

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

Abnormal Development

• Fetal Alcohol Syndrome

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

• Diaphragmatic Hernia List
• Diaphragmatic Hernia

Respiratory

• Lung List- Select
• Emphysema, Congenital Lobar; CLE
• Oculodigitoesophagoduodenal Syndrome
• Tracheoesophageal Fistula

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

Endocrine

• Ret Protooncogene
• DiGeorge Syndrome