Neuronopathy, distal hereditary motor, autosomal recessive 6

Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 6;

Symbol : HMNR6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DSMA6; Neuropathy, distal hereditary motor, autosomal recessive 6; Spinal muscular atrophy, distal, autosomal recessive, 6;

Prefixed ID : #620011;

Details

Origin ID

620011;

UMLS CUI

C5774201;

Currated CISMeF NLP mapping
- autosomal recessive distal hereditary motor neuronopathy 6 [DO Concept]
DO Cross reference
- autosomal recessive distal hereditary motor neuronopathy 6 [DO Concept]
Genes related to phenotype
- Receptor expression-enhancing protein 1 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Arthrogryposis-like hand anomaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Congenital onset [HPO term]
- Craniofacial dystonia [HPO term]
- Developmental regression [HPO term]
- Diaphragmatic eventration [HPO term]
- Diaphragmatic paralysis [HPO term]
- Distal arthrogryposis [HPO term]
- Distal muscle weakness [HPO term]
- Fiber type grouping [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Frequent falls [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Paradoxical respiration [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral neuropathy [HPO term]
- Plantar flexion contracture [HPO term]
- Recurrent acute respiratory tract infection [HPO term]
- Respiratory distress [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Wrist drop [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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