Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Spinal Muscular Atrophies of Childhood (D014897)
..Starting node ..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
Child Nodes:
Sister Nodes:
..Amyotrophy, monomelic (C538253)
..Hamano Tsukamoto syndrome (C535625)
..Muscular atrophy, spinal, infantile chronic form (C536879)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
..Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
..Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10486

Name:

Spinal Muscular Atrophy with Microcephaly and Mental Subnormality

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D008831|MESH:D014897

TreeNumbers:

C05.660.207.620/C564806 |C10.228.854.468.800/C564806 |C10.500.507.400.500/C564806 |C10.574.500.812/C564806 |C10.574.562.500.750/C564806 |C10.597.606.643/C564806 |C10.668.467.500.750/C564806 |C10.668.475.500/C564806 |C16.131.621.207.620/C564806 |C16.131.666.507.40

Synonyms:

Slim Mappings:

Reference:

MedGen: C564806
MeSH: C564806
OMIM: 271110;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001249	Intellectual disability
3	HP:0000252	Microcephaly
4	HP:0006959	Proximal spinal muscular atrophy

Disease Causing ClinVar Variants