OMIM References
From Embryology
Embryology - 11 Dec 2023    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 |
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| 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
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2023, December 11) Embryology OMIM References. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/OMIM_References
- © Dr Mark Hill 2023, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
