Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Synostosis (D013580)
..Starting node ..Syndactyly (D013576)
Child Nodes:
........Acrocephalosyndactylia (D000168) 11
........Aphalangia syndactyly microcephaly (C537787)
........Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
........Aurocephalosyndactyly (C566235)
........Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
........Bonneau Syndrome (C564875)
........Brachydactyly-Syndactyly Syndrome (C565193)
........Ectodermal dysplasia mental retardation syndactyly (C538018)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
........ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
........Eyebrows duplication of, with stretchable skin and syndactyly (C536383)
........Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
........Filippi syndrome (C538152)
........Frints De Smet Fabry Fryns syndrome (C538062)
........Gollop Coates syndrome (C537283)
........Green Sandford Davison syndrome (C538221)
........Kleiner Holmes syndrome (C536885)
........Kozlowski-Krajewska syndrome (C537615)
........Lacrimoauriculodentodigital syndrome (C538132)
........Landy Donnai syndrome (C537266)
........Martinez Monasterio Pinheiro syndrome (C536027)
........Naguib-Richieri-Costa syndrome (C538332)
........Oculodentodigital Dysplasia (C563160)
........Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
........Oculodentoosseous dysplasia recessive (C537733)
........Orofacial Cleft 7 (C563464)
........Orstavik Lindemann Solberg syndrome (C537137)
........Pavone Fiumara Rizzo syndrome (C536313)
........Pfeiffer Rockelein syndrome (C537890)
........Piepkorn Karp Hickok syndrome (C535774)
........Poland Syndrome (D011045)
........Polydactyly, Postaxial, Type A4 (C563909)
........Polysyndactyly, Crossed (C566773)
........Popliteal Pterygium Syndrome (C562509)
........Popliteal Pterygium Syndrome, Lethal Type (C564874)
........Radio-ulnar synostosis type 1 (C536268)
........Radio-ulnar synostosis type 2 (C536269)
........Rosselli-Gulienetti Syndrome (C563117)
........Sclerosteosis (C537525)
........Scott Bryant Graham syndrome (C537528)
........Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
........STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
........Syndactyly Cenani Lenz type (C538150)
........Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
........Syndactyly, type 2 (C538153)
........Syndactyly, type 3 (C538154)
........Syndactyly, Type I (C566096)
........Syndactyly, Type IV (C566092)
........Syndactyly, type v (C538155)
........Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
........Synpolydactyly 1 (C566094)
........Timothy syndrome (C536962)
........Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
........Trueb Burg Bottani syndrome (C536565)
........Winter Shortland Temple syndrome (C536735)
........Zerres Rietschel Majewski syndrome (C536724)
........Zlotogora-Ogur syndrome (C536726)
........Zygodactyly 1 (C565223)
Sister Nodes:
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Banki Syndrome (C566228)
..Coronal synostosis, syndactyly and jejunal atresia (C536445)
..Craniosynostoses (D003398) 64
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Humeroradial Multiple Synostosis Syndrome (C565509)
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Jorgenson Lenz syndrome (C536292)
..Mesomelia-synostoses syndrome (C537348)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Multiple synostoses syndrome 2 (C537380)
..Multiple Synostoses Syndrome 3 (C567839)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Patella aplasia, coxa vara, tarsal synostosis (C536307)
..Prata Libéral Gonçalves syndrome (C538277)
..Radioulnar Synostosis (C562408)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Ramer Ladda syndrome (C535284)
..Spondylocarpotarsal synostosis (C535780)
..Symphalangism of Toes (C566101)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Syndactyly (D013576) 69
..Synostoses, tarsal, carpal, and digital (C538156)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Tsukahara Syndrome (C566376)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10799
Name:	Syndactyly
Definition:	A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Alternative IDs:
ParentIDs:	MESH:D013580\|MESH:D017880
TreeNumbers:	C05.116.099.370.894.819 \|C05.660.585.800 \|C05.660.906.819 \|C16.131.621.585.800 \|C16.131.621.906.819
Synonyms:	Polysyndactyly \|Syndactylia \|Syndactylias \|Syndactylies
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: D013576 MeSH: D013576 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants