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:
expandArthrogryposis (D001176)
..Starting node
..expandArthrogryposis, Distal, Type 10 (C566069)

       Child Nodes:



 Sister Nodes: 
..expandArthrogryposis and ectodermal dysplasia (C537441)
..expandArthrogryposis epileptic seizures migrational brain disorder (C537442)
..expandArthrogryposis multiplex congenita neurogenic type (C536614)
..expandArthrogryposis multiplex congenita whistling face (C538401)
..expandArthrogryposis multiplex congenita, distal type 1 (C535378)
..expandArthrogryposis multiplex congenita, distal type 2 (C535379)
..expandArthrogryposis multiplex congenita, distal, X-linked (C535380)
..expandArthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..expandArthrogryposis renal dysfunction cholestasis syndrome (C535382)
..expandARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
..expandArthrogryposis, Distal, Type 10 (C566069)
..expandARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
..expandArthrogryposis, distal, type 2E (C535384)
..expandArthrogryposis, Distal, Type 4 (C563791)
..expandArthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..expandArthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..expandArthrogryposis, X-Linked, Type V (C564574)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandBoylan Dew Greco syndrome (C537083)
..expandBruck syndrome 1 (C537406)
..expandBruck syndrome 2 (C537407)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandCerebrooculofacioskeletal Syndrome 2 (C565185)
..expandCerebrooculofacioskeletal Syndrome 4 (C565184)
..expandContractures ectodermal dysplasia cleft lip palate (C535465)
..expandCyprus facial neuromusculoskeletal syndrome (C536229)
..expandDistal arthrogryposis Moore Weaver type (C536814)
..expandDistal arthrogryposis type 2B (C538400)
..expandEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..expandGerman Syndrome (C562543)
..expandGordon syndrome (C537288)
..expandHecht syndrome (C535857)
..expandHoloprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..expandJequier Kozlowski skeletal dysplasia (C537569)
..expandJohnston Aarons Schelley syndrome (C535883)
..expandKuskokwim disease (C538124)
..expandLadda Zonana Ramer syndrome (C538135)
..expandLethal Arthrogryposis With Anterior Horn Cell Disease (C567502)
..expandLethal congenital contracture syndrome 1 (C537194)
..expandLethal Congenital Contracture Syndrome 2 (C564369)
..expandMassa Casaer Ceulemans syndrome (C536031)
..expandMinicore myopathy, antenatal onset, with arthrogryposis (C537474)
..expandMultiple Pterygium Syndrome, Autosomal Dominant (C566739)
..expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandNeuropathy, congenital, with arthrogryposis multiplex (C535714)
..expandOculomelic amyoplasia (C537737)
..expandPelvic dysplasia arthrogryposis of lower limbs (C535548)
..expandPena Shokeir syndrome, type 1 (C536647)
..expandPodder-Tolmie syndrome (C537518)
..expandRay Peterson Scott syndrome (C535292)
..expandSpondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..expandSpranger Schinzel Myers syndrome (C535801)
..expandTomaculous neuropathy (C536965)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:906
Name:Arthrogryposis, Distal, Type 10
Definition:
Alternative IDs:
ParentIDs:MESH:D001176
TreeNumbers:C05.550.150/C566069 |C05.651.102/C566069 |C05.660.077/C566069 |C16.131.621.077/C566069
Synonyms:Tendo Calcaneus, Short
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566069
MeSH: C566069
OMIM: 187370;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011463Childhood onset
3 HP:0002804Arthrogryposis multiplex congenita
4 HP:0100490Camptodactyly of finger
5 HP:0005684Distal arthrogryposis
6 HP:0002987Elbow flexion contracture
7 HP:0003089Hamstring contractures
8 HP:0008112Plantar flexion contractures
9 HP:0040083Toe walking
10 HP:0003828Variable expressivity
11 HP:0001239Wrist flexion contracture
Disease Causing ClinVar Variants