About: Juberg-Hayward syndrome

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Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit

Attributes	Values
rdf:type	Item
description	erbliche Erkrankung (de) Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit (en)
exact match	wds:Q18021495-160296C4-5195-480F-AED1-F61B0E748BE6
exact match	http://www.orpha.net/ORDO/Orphanet_2319
Mondo ID	wds:Q18021495-FFE736C0-0700-43F6-9A84-64B6B1CFAE35
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008992
Mondo ID	MONDO_0008992
rdfs:label	Juberg-Hayward sendromu (tr) Juberg-Hayward syndrome (en) Juberg-Hayward-Syndrom (de) Syndrome de Juberg-Hayward (fr)
skos:prefLabel	Juberg-Hayward sendromu (tr) Juberg-Hayward syndrome (en) Juberg-Hayward-Syndrom (de) Syndrome de Juberg-Hayward (fr)
name	Juberg-Hayward sendromu (tr) Juberg-Hayward syndrome (en) Juberg-Hayward-Syndrom (de) Syndrome de Juberg-Hayward (fr)
instance of	wds:Q18021495-00BEE74A-0690-4922-A50C-D650E15A3D88 wds:Q18021495-5F8CD57C-6E69-4582-85BB-21F8ED6BFAC6 wds:Q18021495-69351AAD-F295-47A3-A871-0A0C85ACEE99 wds:Q18021495-A3384A19-48D3-41CC-B165-31BDB5E502F5
instance of	class of disease hereditary disorder head and neck disease developmental defect during embryogenesis
subclass of	wds:Q18021495-88A46F34-6783-45E6-8A40-C3336453A471 wds:Q18021495-BDEEA341-3B50-4CE4-96E7-100C5CCC5EC1 wds:Q18021495-c02cea45-45eb-0271-dd58-1a31156b346e
subclass of	multiple congenital anomalies/dysmorphic syndrome without intellectual disability orofacial clefting syndrome cohesinopathy
UniProt disease ID	wds:Q18021495-1e2e6c1f-4796-c8a3-fb5b-cc4c7b448dff
Orphanet ID	wds:Q18021495-4657B48A-0F6B-41C5-8663-6E764DECFB98
ICD-10-CM	wds:Q18021495-95DDDFB5-5FA3-4FE2-8ECF-B01A78DE0E11
GARD rare disease ID	wds:Q18021495-831948BA-BE0C-4C05-8B27-D317B3DC57E3
OMIM ID	wds:Q18021495-b2ec1c39-4933-f2f3-6794-a7055988e652
UniProt disease ID	DI-06066
Orphanet ID	2319
ICD-10-CM	Q87.0
GARD rare disease ID	3060
OMIM ID	216100
skos:altLabel	JHS (en) CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY (en) Juberg-Hayward Syndrome (en) Orocraniodigital Syndrome (en) Cleft lip/palate-abnormal thumbs-microcephaly syndrome (en)
UMLS CUI	wds:Q18021495-156EF800-03A5-409F-B483-8ABE0053E8CD
MeSH descriptor ID	wds:Q18021495-92b9dae4-4898-8db4-ff01-bf1e8135aee7
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537690
UMLS CUI	C0796099
MeSH descriptor ID	C537690
is owl:sameAs of	Juberg-Hayward syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18021495 Juberg–Hayward syndrome https://de.wikipedia.org/wiki/Juberg-Hayward-Syndrom https://tr.wikipedia.org/wiki/Juberg-Hayward_sendromu
is main subject of	Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. A case of the orocraniodigital (Juberg-Hayward) syndrome Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2 Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2 Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies
is main subject of	wds:Q33669232-20331AA5-DCEF-401A-9D5F-ADBBBE2B7DC7 wds:Q57925189-E906A1C0-99AD-409B-95E1-F2E46F7FBDD7 wds:Q91625775-08669CAD-07BC-4333-8E32-5A069FBFAB80 wds:Q51946819-DD8D5558-D351-4B50-B436-12DBBD279F9C wds:Q99724094-3FE482A9-C143-4F34-96FF-49F75EF8D95A wds:Q73824816-73039B6A-1E13-46A2-90C2-DF170F96E2D2 wds:Q35116531-3BAB570F-CCEF-4AD2-9F55-E704DFB986E9

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