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, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)

       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:905
Name:ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
Definition:
Alternative IDs:
ParentIDs:MESH:D001176
TreeNumbers:C05.550.150/300158 |C05.651.102/300158 |C05.660.077/300158 |C16.131.621.077/300158
Synonyms:ACLLX |AMCX5, FORMERLY |ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: 300158
MeSH: 300158
OMIM: 300158;

Genes:
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0006466Ankle flexion contracture
3 HP:0002804Arthrogryposis multiplex congenita
4 HP:0001288Gait disturbance
5 HP:0003273Hip contracture
6 HP:0006380Knee flexion contracture
7 HP:0003680Nonprogressive
8 HP:0001763Pes planus
Disease Causing ClinVar Variants