PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Fibrous Dysplasia Of Bone

Synonyms
Definitions

An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036726

Database_Cross_Reference

LCH_NW:sh85048040

SNMI:D4-01020

MTH:NOCODE

MDR:10016664

MSH:D005357

SNM:M-74930

LCH:U005896

SNOMEDCT_US:10623005

NDFRT:N0000001251

HPO:HP:0010734

CHV:0000005038

SNMI:D1-61627

LCH:U001786

SNM:M-74810

DO:DOID:1858

Definition

An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene.

label

Fibrous Dysplasia Of Bone

MCID

MC00005119

PMOID

PMO:00036726

prefixIRI

pmo:PMO_00036726

prefLabel

Fibrous Dysplasia Of Bone

Synonym

polyostotic fibrous dysplasia

Osteitis fibrosa, NOS

fibrosa osteitis

Fibrous dysplasia of bone (disorder)

Bone Fibrous Dysplasias

Fibrous Dysplasia of Bone

Bone Fibrous Dysplasia

Osteitis fibrosa

fibrous dysplasia of bone

Fibrous dysplasia of bone, NOS

osteitis fibrosa

Fibrous dysplasia of bone

fibrous dysplasia bone

Osteitis fibrosa disseminata

fibrous Dysplasia of bone

bone dysplasia fibrous

McCune Albright syndrome

Fibrous Dysplasia of Bone [Disease/Finding]

Fibrous dysplasia of the bones

Osteitis Fibrosa Disseminata

osteitis fibrosa disseminata

Tree Number

T9.3.9.22.13.7

T9.8.4.19.7

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00013616

http://www.phoc.org.cn/pmo/class/PMO_00013956

http://www.phoc.org.cn/pmo/class/PMO_00036719

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