SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI

http://purl.bioontology.org/ontology/OMIM/604320

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI

HMN6

SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC

NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1

DHMN6

DSMA1

SIANRF

SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE

HMN VI

SMARD1

C1858517

11q13.2-q13.4

HMN6

SMUBP2

IGHMBP2

CATF1

CMT2S

SMARD1

http://purl.bioontology.org/ontology/OMIM/MTHU004803

http://purl.bioontology.org/ontology/OMIM/MTHU003111

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU037032

http://purl.bioontology.org/ontology/OMIM/MTHU004788

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU004789

http://purl.bioontology.org/ontology/OMIM/MTHU004807

http://purl.bioontology.org/ontology/OMIM/MTHU004805

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU004794

http://purl.bioontology.org/ontology/OMIM/MTHU004792

http://purl.bioontology.org/ontology/OMIM/MTHU004798

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU004790

http://purl.bioontology.org/ontology/OMIM/MTHU004802

http://purl.bioontology.org/ontology/OMIM/MTHU004800

http://purl.bioontology.org/ontology/OMIM/MTHU004809

http://purl.bioontology.org/ontology/OMIM/MTHU001531

http://purl.bioontology.org/ontology/OMIM/MTHU000907

http://purl.bioontology.org/ontology/OMIM/MTHU029385

http://purl.bioontology.org/ontology/OMIM/MTHU004810

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU037872

http://purl.bioontology.org/ontology/OMIM/MTHU004797

http://purl.bioontology.org/ontology/OMIM/MTHU038644

http://purl.bioontology.org/ontology/OMIM/MTHU004801

http://purl.bioontology.org/ontology/OMIM/MTHU004804

http://purl.bioontology.org/ontology/OMIM/MTHU004806

http://purl.bioontology.org/ontology/OMIM/MTHU004799

http://purl.bioontology.org/ontology/OMIM/MTHU004795

http://purl.bioontology.org/ontology/OMIM/MTHU004793

http://purl.bioontology.org/ontology/OMIM/MTHU004791

Phenotype description, molecular basis known.

604320

3

pound

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1

T047