Autosomal recessive distal osteolysis syndrome

disorder

SNOMED 715487005CUI C1850143

Overview

Autosomal recessive distal osteolysis syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Breakdown of bone

Very frequent (80-99%)HP:0002797

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Decreased body height

Very frequent (80-99%)HP:0004322

Deficiency of upper jaw bones

Very frequent (80-99%)HP:0000327

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Prominent globes

Very frequent (80-99%)HP:0000520

Small midface

Very frequent (80-99%)HP:0011800

Tooth abnormalities

Very frequent (80-99%)HP:0000164

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Osteolysis(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715487005
UMLS CUI: C1850143
Fully Specified Name: Autosomal recessive distal osteolysis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.