Medical Subject Headings

Last uploaded: November 18, 2019
Preferred Name

Microcephalic Osteodysplastic Primordial Dwarfism, Type II

Synonyms

Microcephalic Osteodysplastic Primordial Dwarfism Type II

ID

http://purl.bioontology.org/ontology/MESH/C565898

altLabel

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Microcephalic osteodysplastic primordial dwarfism, type 2

Mopd2

Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities

Osteodysplastic Primordial Dwarfism Type Ii

Osteodysplastic primordial dwarfism, type 2

Majewski Osteodysplastic Primordial Dwarfism Type II

MOPD II

MopdII

Osteodysplastic Primordial Dwarfism, Type II

cui

C3502214

C0432246

HM

D010009

D004392

D005317

D008831

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D005317

http://purl.bioontology.org/ontology/MESH/D008831

http://purl.bioontology.org/ontology/MESH/D004392

MDA

20121105

MeSH Frequency

20

MMR

20150927

notation

C565898

prefLabel

Microcephalic Osteodysplastic Primordial Dwarfism, Type II

SC

3

Scope Statement

A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (OMIM: 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild INTELLECTUAL DISABILITY. Mutations in the PCNT gene have been identified. OMIM: 210720

TERMUI

T743061

T824397

T846233

T824394

T829557

T846234

T842006

T846232

T000885648

T743058

T842008

TH

NLM (1981)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T019

T047

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http://purl.bioontology.org/ontology/OMIM/210720 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/210720 OMIM LOOM
http://purl.bioontology.org/ontology/OMIM/605925 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X78B3 RCD CUI
http://purl.obolibrary.org/obo/MONDO_0008872 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_2637 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_2637 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2637 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565898 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0060609 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060609 NIFSTD LOOM
http://purl.bioontology.org/ontology/SCTSPA/254103003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254103003 SNOMEDCT CUI