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:
expandGrowth Disorders (D006130)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandLipodystrophy, Congenital Generalized (D052497)
..Starting node
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)

       Child Nodes:



 Sister Nodes: 
..expandLipodystrophy, Congenital Generalized, Type 3 (C567282)
..expandLipodystrophy, Congenital Generalized, Type 4 (C567642)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6471
Name:Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D006319|MESH:D008607|MESH:D052497
TreeNumbers:C09.218.458.341.887/C564283 |C10.597.606.643/C564283 |C10.597.751.418.341.887/C564283 |C16.320.565.398.745/C564283 |C17.800.849.391.550/C564283 |C18.452.584.625.550/C564283 |C18.452.648.398.745/C564283 |C18.452.880.391.550/C564283 |C23.550.393/C564283 |C23.888.59
Synonyms:
Slim Mappings:Ear-nose-throat disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C564283
MeSH: C564283
OMIM: 608154;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001547Abnormal rib cage morphology
3 HP:0009059Congenital generalized lipodystrophy
4 HP:0002967Cubitus valgus
5 HP:0000490Deeply set eye
6 HP:0002750Delayed skeletal maturation
7 HP:0006153Disharmonious carpal bone
8 HP:0001508Failure to thrive
9 HP:0009064Generalized lipodystrophy
10 HP:0002857Genu valgum
11 HP:0000327Hypoplasia of the maxilla
12 HP:0001249Intellectual disability
13 HP:0001511Intrauterine growth retardation
14 HP:0100818Long thorax
15 HP:0000938Osteopenia
16 HP:0005328Progeroid facial appearance
17 HP:0001250Seizure
18 HP:0000407Sensorineural hearing impairment
19 HP:0100864Short femoral neck
20 HP:0004322Short stature
21 HP:0004993Slender long bones with narrow diaphyses
22 HP:0001518Small for gestational age
23 HP:0002215Sparse axillary hair
24 HP:0007464Sparse facial hair
Disease Causing ClinVar Variants