MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Arthrogryposis (D001176)
..Starting node
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Lethal Congenital Contracture Syndrome 2 (C564369)

       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 1B (OMIM:614335)
..expandArthrogryposis, distal, type 2E (C535384)
..expandARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
..expandArthrogryposis, Distal, Type 4 (C563791)
..expandARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
..expandARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
..expandARTHROGRYPOSIS, DISTAL, TYPE 8 (OMIM:178110)
..expandArthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..expandARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
..expandArthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..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)
..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 10 (OMIM:617022)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
..expandLethal Congenital Contracture Syndrome 2 (C564369)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
..expandLETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
..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,ClinVar, CTD
Term ID:6927
Name:Lethal Congenital Contracture Syndrome 2
Definition:
Alternative IDs:DO:DOID:0060560|OMIM:607598
ParentIDs:MESH:D001176
TreeNumbers:C05.550.150/C564369 |C05.651.102/C564369 |C05.660.077/C564369 |C16.131.621.077/C564369
Synonyms:LCCS2 |Multiple Contracture Syndrome, Israeli Bedouin Type A
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C564369
MeSH: C564369
OMIM: 607598;
MSeqDR LSDB:  
Genes: ERBB3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002304Akinesia
3 HP:0002804Arthrogryposis multiplex congenita
4 HP:0001558Decreased fetal movement
5 HP:0007964Degenerative vitreoretinopathy
6 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
HP:0040283
7 HP:0000969Edema
8 HP:0011003High myopia
9 HP:0000126Hydronephrosis
10 HP:0000347Micrognathia
11 HP:0001561Polyhydramnios
12 HP:0002878Respiratory failure Infantile onset
13 HP:0003202Skeletal muscle atrophy
14 HP:0001629Ventricular septal defectHP:0040283
Disease Causing ClinVar Variants
MSeqDR Portal