Pseudohypoparathyroidism type I B

disorder

SNOMED 56090007CUI C1864100

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Pseudohypoparathyroidism

Always present (100%)HP:0000852

Hyperphosphatemia

Very frequent (80-99%)HP:0002905

Increased serum parathyroid hormone

Very frequent (80-99%)HP:0003165

Low blood calcium levels

Very frequent (80-99%)HP:0002901

Low urinary cyclic AMP response to PTH administration

Very frequent (80-99%)HP:0003456

Cataract

Frequent (30-79%)HP:0000518

Decreased body height

Frequent (30-79%)HP:0004322

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Enamel dysplasia

Frequent (30-79%)HP:0006297

Flat nasal bridge

Frequent (30-79%)HP:0005280

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Puffy cheeks

Frequent (30-79%)HP:0000293

Round, full face

Frequent (30-79%)HP:0000311

Short neck

Frequent (30-79%)HP:0000470

Abdominal symptom

Occasional (5-29%)HP:0011458

Brachydactyly

Occasional (5-29%)HP:0001156

Chest discomfort

Occasional (5-29%)HP:0100749

Conjunctivitis, recurrent

Occasional (5-29%)HP:0000509

Cortical subperiosteal resorption of humeral metaphyses

Occasional (5-29%)HP:0003909

Depression

Occasional (5-29%)HP:0000716

Diaphyseal osteosclerosis

Occasional (5-29%)HP:0003034

Difficulty breathing

Occasional (5-29%)HP:0002094

Dyskinesia

Occasional (5-29%)HP:0100660

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Hypocalcemic tetany

Occasional (5-29%)HP:0003472

Hyporeflexia

Occasional (5-29%)HP:0001265

Increased bone density with cystic changes

Occasional (5-29%)HP:0005700

Increased bone mineral density

Occasional (5-29%)HP:0011001

Irritability

Occasional (5-29%)HP:0000737

Long Q-T syndrome

Occasional (5-29%)HP:0001657

Related Conditions

Pseudohypoparathyroidism(parent)

Quick Facts

SNOMED CT: 56090007
UMLS CUI: C1864100
Fully Specified Name: Pseudohypoparathyroidism type I B (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.