Visualize Submit Comment
Metadata
ID DOID:0070795
PURL http://purl.obolibrary.org/obo/DOID_0070795 Copy
Name hyposulfatemia with skeletal dysplasia
Definition An inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal flaring, and vertebral irregularities with kyphosis, lordosis, or scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A gene on chromosome 7q31.
https://pubmed.ncbi.nlm.nih.gov/39925707/, https://pubmed.ncbi.nlm.nih.gov/36175384/
Xrefs

MIM:621654
SKOS

exactMatch MIM:621654
Subsets

DO_rare_slim
Synonyms

HSSD [EXACT]
Parent Relationships

is_a inherited metabolic disorder

is_a autosomal recessive disease

is_a spondyloepimetaphyseal dysplasia
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker