About: microcephalic osteodysplastic primordial dwarfism type II

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Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q6839323-15D1FE0E-7380-4490-AC2A-9108C72E3E05 wds:Q6839323-A4CD2B30-EAEC-4615-9E36-C17C81EDA813 wds:Q6839323-F8244E45-D76C-4E23-A6AB-3F0514D27A5A
exact match	http://purl.obolibrary.org/obo/DOID_0060609 http://identifiers.org/doid/DOID:0060609 http://www.orpha.net/ORDO/Orphanet_2637
health specialty	wds:Q6839323-7CA5DFE5-8ED2-4C92-BF7A-D3A432404ACB
Mondo ID	wds:Q6839323-6C1A0E2A-4DBD-443D-9E7B-F572B8AC77FC
Disease Ontology ID	wds:Q6839323-86621B4A-86D7-4A96-844D-17188381351E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008872
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060609
health specialty	medical genetics
Mondo ID	MONDO_0008872
Disease Ontology ID	DOID:0060609
rdfs:label	microcephalic osteodysplastic primordial dwarfism type II (en) MOPD II (bs) Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (pl) nanisme microcéphalique ostéodysplasique primordial type 2 (fr)
skos:prefLabel	microcephalic osteodysplastic primordial dwarfism type II (en) MOPD II (bs) Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (pl) nanisme microcéphalique ostéodysplasique primordial type 2 (fr)
name	microcephalic osteodysplastic primordial dwarfism type II (en) MOPD II (bs) Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (pl) nanisme microcéphalique ostéodysplasique primordial type 2 (fr)
instance of	wds:Q6839323-5290859A-B9F0-47A5-8FC4-22195727E200 wds:Q6839323-659F524D-5EA0-4882-B170-DB9C327C667A wds:Q6839323-844146D7-36C7-4F36-86DF-C28BC8BF7662 wds:Q6839323-C4C07781-80E1-4942-871E-FF754414BFFF
instance of	class of disease rare disease malformation syndrome developmental defect during embryogenesis
subclass of	wds:Q6839323-0E3E6A7C-A4B6-435B-9245-5F0D0686311A wds:Q6839323-4B40B858-5BCA-4323-A829-DF4D71EC3783 wds:Q6839323-4E84FD0B-0BEF-48B6-A8AD-877E0BF5EE05 wds:Q6839323-5fdd0868-4624-89cc-9ffb-89d6376f7275 wds:Q6839323-980ee596-48a3-e214-304b-94c4fed8bfd9 wds:Q6839323-AE507745-0F3B-4581-8FF9-9A02BAA358CE wds:Q6839323-B26A2C94-09FA-49A8-BC05-290DFB9C2FB0 wds:Q6839323-BA24F8F2-22BF-4BC3-9A98-30B22FAA7231
subclass of	genetic disease primordial dwarfism autosomal recessive disease multiple epiphyseal dysplasia microcephalic osteodysplastic primordial dwarfism syndromic obesity microcephalic primordial dwarfism Moyamoya syndrome
KEGG ID	wds:Q6839323-AFA9E3EC-AEDE-42B5-BBF4-DDBCA0A17052
KEGG ID	http://www.kegg.jp/entry/H00991
KEGG ID	H00991
UniProt disease ID	wds:Q6839323-363df75c-4b5d-f377-6dd0-8b629f47d0dd
Orphanet ID	wds:Q6839323-6A64EAAD-6898-4BB2-97AE-59D3D95D9802
genetic association	wds:Q6839323-EC42316B-C917-4F8C-A154-F057DA0C8B11
ICD-10-CM	wds:Q6839323-C97B3F48-237A-4B52-9C3A-43AFFDC4BF7A
GARD rare disease ID	wds:Q6839323-F85558D6-F0E1-4379-9DCA-726568C69D38
OMIM ID	wds:Q6839323-49C0764D-5843-400F-94D5-2B7DC476BF0D
Genetics Home Reference Conditions ID	wds:Q6839323-9D091097-DE18-4032-8EB0-A9AB3EE19337
UniProt disease ID	DI-01976
Orphanet ID	2637
genetic association	PCNT
ICD-10-CM	Q87.1
GARD rare disease ID	9844
OMIM ID	210720
Genetics Home Reference Conditions ID	microcephalic-osteodysplastic-primordial-dwarfism-type-ii
skos:altLabel	Microcephalic osteodysplastic primordial dwarfism type 2 (en) MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (en) Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities (en) MOPD II (en) MOPD type II (en) MOPD2 (en) Mopd 2 (en) Osteodysplastic Primordial Dwarfism, Type 2 (en) Osteodysplastic primordial dwarfism type 2 (en) Osteodysplastyczna mikrocefaliczna karłowatość (pl) osteodysplastic primordial dwarfism type II (en) MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 (en) Majewski osteodysplastic primordial dwarfism type II (en)
UMLS CUI	wds:Q6839323-57BD47E5-A949-4083-BD5B-69FE9B5E017B
MeSH descriptor ID	wds:Q6839323-19272D1E-ED48-46FB-9301-3D5EB5278E1F
on focus list of Wikimedia project	wds:Q6839323-88EA6C38-1C6C-4EFF-9C31-F9BCD71CE206
Microsoft Academic ID	wds:Q6839323-54E9EDF2-3228-4B98-BFBE-6E9AA5E6AE02
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C565898
Microsoft Academic ID	https://makg.org/entity/2908629441
UMLS CUI	C0432246
MeSH descriptor ID	C565898
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2908629441
WikiProjectMed ID	wds:Q6839323-0897C73A-4D61-4CF8-852D-3A359442850D
WikiProjectMed ID	Microcephalic osteodysplastic primordial dwarfism type II
is owl:sameAs of	microcephalic osteodysplastic primordial dwarfism type II
is about of	https://pl.wikipedia.org/wiki/Pierwotna_kar%C5%82owato%C5%9B%C4%87_osteodysplastyczna_mikrocefaliczna

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