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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

Disease Browser
Parent Node: Trichothiodystrophy Syndromes (D054463)
..Starting node ..Sabinas brittle hair syndrome (C536320)
Child Nodes:
Sister Nodes:
..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
..Sabinas brittle hair syndrome (C536320)
..Trichorrhexis nodosa syndrome (C536556)
..Trichothiodystrophy with Sun Sensitivity (C564733)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9930

Name:

Sabinas brittle hair syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D054463

TreeNumbers:

C16.131.077.899/C536320 |C16.131.831.874/C536320 |C16.320.850.895/C536320 |C17.800.804.874/C536320 |C17.800.827.895/C536320

Synonyms:

Brittle hair and mental deficit |Sabinas syndrome

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536320
MeSH: C536320
OMIM: 211390;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002299	Brittle hair
3	HP:0011359	Dry hair
4	HP:0001249	Intellectual disability
5	HP:0002164	Nail dysplasia
6	HP:0008404	Nail dystrophy	HP:0040283
7	HP:0001006	obsolete Hypotrichosis

Disease Causing ClinVar Variants