Neuropathy, hereditary sensory and autonomic, type iib

Preferred Label : Neuropathy, hereditary sensory and autonomic, type iib;

Symbol : HSAN2B;

CISMeF acronym : HSAN2B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 134, member B gene (FAM134B, 613114.0001);

Prefixed ID : #613115;

Details

Origin ID

613115;

UMLS CUI

C2751092;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Broader ORDO disease(s)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type IIB [ICD-11 More detail]
- Hereditary sensory autonomic neuropathy type IIB (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 2B [DO Concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH Supplementary Concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 2B [DO Concept]
Genes related to phenotype
- Reticulophagy regulator 1 [OMIM gene]
HPO term(s)
- Acral ulceration [HPO term]
- Areflexia [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal recessive inheritance [HPO term]
- Episodic hyperhidrosis [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Nerve biopsy shows axonal neuropathy [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Osteomyelitis [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Progressive [HPO term]
- Spasticity [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory autonomic neuropathy type IIB (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 2B [DO Concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH concept]

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