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:
expandCataract (D002386)
Parent Node:
expandContracture (D003286)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMalformations of Cortical Development (D054220)
Parent Node:
expandOsteoporosis (D010024)
Parent Node:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar ataxia 28 (C537205)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4830
Name:Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D003286|MESH:D006130|MESH:D008607|MESH:D010024|MESH:D013132|MESH:D054220
TreeNumbers:C05.116.198.579/C564264 |C05.550.323/C564264 |C05.651.197/C564264 |C10.228.140.252.700/C564264 |C10.228.854.787/C564264 |C10.500.507/C564264 |C10.574.500.825/C564264 |C10.597.606.643/C564264 |C11.510.245/C564264 |C16.131.666.507/C564264 |C16.320.400.780/C564264 |C2
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C564264
MeSH: C564264
OMIM: 608278;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002069Bilateral tonic-clonic seizure
3 HP:0001272Cerebellar atrophy
4 HP:0005781Contractures of the large joints
5 HP:0002539Cortical dysplasia
6 HP:0000519Developmental cataract
7 HP:0006887Intellectual disability, progressive
8 HP:0010864Intellectual disability, severe
9 HP:0000252Microcephaly
10 HP:0001270Motor delay
11 HP:0000939Osteoporosis
12 HP:0008897Postnatal growth retardation
13 HP:0000336Prominent supraorbital ridges
14 HP:0004322Short stature
Disease Causing ClinVar Variants