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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acheiropody  
acrocephalosyndactylia +   
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acrootoocular Syndrome 
acrorenal syndrome +  
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aphalangia Syndactyly Microcephaly 
Aurocephalosyndactyly 
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Banki Syndrome 
Barth syndrome +   
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blue cone monochromacy  
Bonneau Syndrome 
Borjeson-Forssman-Lehmann syndrome  
brachydactyly type E1  
brachydactyly type E2  
brachydactyly-syndactyly syndrome  
Brunner syndrome  
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type +  
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
Carnevale Hernandez Castillo Syndrome 
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
Catel Manzke Syndrome  
CD40 ligand deficiency +   
Cenani-Lenz syndactyly syndrome  
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Chitayat Meunier Hodgkinson Syndrome 
CK syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
Crossed Polysyndactyly 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Digitotalar Dysmorphism 
distal arthrogryposis type 3  
Distal Symphalangism +   
DOORS syndrome  
Duchenne muscular dystrophy +   
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
ectodermal dysplasia 1 +   
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia-Syndactyly Syndrome +   
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken syndrome  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
factor VIII deficiency +   
Fairbank Disease 
Fanconi anemia complementation group B  
Femur Bifid with Monodactylous Ectrodactyly 
FG syndrome +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi syndrome  
Fraser syndrome +   
Frints De Smet Fabry Fryns Syndrome 
frontometaphyseal dysplasia 1  
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Galloway-Mowat syndrome 2  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
glycogen storage disease IXa  
glycogen storage disease IXd  
Gollop Coates Syndrome 
Goodman Camptodactyly 
Grange Syndrome  
Green Sandford Davison Syndrome 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
HRPT-related hyperuricemia  
hydrolethalus syndrome +   
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
isolated growth hormone deficiency type III  
IVIC syndrome  
Johnson Munson Syndrome 
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Landy Donnai Syndrome 
Laurin-Sandrow syndrome  
Leri Pleonosteosis 
Lesch-Nyhan syndrome +   
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Martinez Monasterio Pinheiro Syndrome 
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction  
Metaphyseal Acroscyphodysplasia 
methylmalonic acidemia and homocysteinemia cblX type  
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Mullegama-Klein-Martinez syndrome  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Naguib-Richieri-Costa Syndrome 
nephrogenic syndrome of inappropriate antidiuresis  
Neurofaciodigitorenal Syndrome 
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Odontotrichoungual-Digital-Palmar Syndrome 
Opitz GBBB syndrome type I  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
orofaciodigital syndrome VIII 
Oslam syndrome 
osteogenesis imperfecta type 19  
otopalatodigital syndrome spectrum disorder +   
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington syndrome  
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pavone Fiumara Rizzo Syndrome 
Pelizaeus-Merzbacher disease +   
Periventricular Nodular Heterotopia 7  
Pfeiffer Rockelein Syndrome 
Pfeiffer Tietze Welte Syndrome 
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Piepkorn Karp Hickok syndrome 
Poland syndrome 
popliteal pterygium syndrome +   
Postaxial Polydactyly, Type A4 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Prieto syndrome 
primary ovarian insufficiency 2B  
Progeroid Facial Appearance with Hand Anomalies 
Pseudotrisomy 13 Syndrome  
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Renpenning syndrome  
retinitis pigmentosa 23  
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Ritscher-Schinzel syndrome 2  
Rosselli-Gulienetti Syndrome 
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
sclerosteosis +   
Second Metatarsal-Metacarpal Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Split Hand, Split Foot, Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Stapes Ankylosis with Broad Thumbs and Toes  
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 1  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
Syndactyly Type 6 
syndactyly type 8  
A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1. (DO)
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked mental retardation 35  
synpolydactyly +   
Synpolydactyly 2  
Tabatznik Syndrome 
tarsal-carpal coalition syndrome +   
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
terminal osseous dysplasia  
Timothy syndrome  
Tollner Horst Manzke Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Trueb Burg Bottani Syndrome 
Tukel Syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Esch-O'Driscoll syndrome  
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vohwinkel syndrome  
Waisman syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Wilson-Turner syndrome  
Winter Shortland Temple Syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia  
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
zygodactyly 1 

Synonyms
Exact Synonyms: MF4 ;   Metacarpal 4 5 Fusion ;   fusion of metacarpals 4 and 5
Primary IDs: MESH:C564100
Alternate IDs: OMIM:309630
Xrefs: GARD:3559 ;   ORDO:2498
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23709756 "DO"

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