About: Nager acrofacial dysostosis

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About: Nager acrofacial dysostosis Goto Sponge NotDistinct Permalink

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acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) zespół wad genetycznych (pl) acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children (en)
exact match	wds:Q12811075-B8B1F99C-4AAE-4C3E-B1F1-28A5E2FCE35C wds:Q12811075-E28284C5-9BB0-40E6-AAEE-C2CFC15750D7 wds:Q12811075-E591D2A4-F1DB-4269-903D-FD1646493A20
exact match	http://purl.obolibrary.org/obo/DOID_5768 http://identifiers.org/doid/DOID:5768 http://www.orpha.net/ORDO/Orphanet_245
Mondo ID	wds:Q12811075-181253D9-A8FB-4DF6-8A2E-45ECC6A504A0
Disease Ontology ID	wds:Q12811075-6DCB97FC-5090-4966-9378-5874018D8D54
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007943
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:5768
Mondo ID	MONDO_0007943
Disease Ontology ID	DOID:5768
rdfs:label	Nager acrofacial dysostosis (en) Nager sendromu (tr) Nager-Syndrom (de) Sindrome di Nager (it) Zespół Nagera (pl) dysostose acrofaciale type Nager (fr)
skos:prefLabel	Nager acrofacial dysostosis (en) Nager sendromu (tr) Nager-Syndrom (de) Sindrome di Nager (it) Zespół Nagera (pl) dysostose acrofaciale type Nager (fr)
name	Nager acrofacial dysostosis (en) Nager sendromu (tr) Nager-Syndrom (de) Sindrome di Nager (it) Zespół Nagera (pl) dysostose acrofaciale type Nager (fr)
instance of	wds:Q12811075-1CB1895C-23C8-464D-A57F-D800E9A8B659 wds:Q12811075-5751BE78-4900-4EE1-9383-6328542EB31F wds:Q12811075-C635DF52-096F-4E87-878D-5D2C566060CD wds:Q12811075-F8C75588-F989-4066-A0E0-CCD7BA8D3D1B
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q12811075-0B865BC8-0F7F-4EFD-A2EF-457E433C19E2 wds:Q12811075-30599D49-4034-4844-AFF3-48D73B34706F wds:Q12811075-6B54C588-5168-413A-966F-136CFFCB6904 wds:Q12811075-7114B1AF-E95F-4A35-ABEC-CC5AADCFD6D5 wds:Q12811075-7C4A1CC9-82A0-4CFF-9EEB-7EF046E44E20 wds:Q12811075-B9CC2046-348D-4646-9150-18B0E0665733 wds:Q12811075-F73BF137-1D30-4142-B748-4D0E0286C709
subclass of	syndromic developmental defect of the eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability acrofacial dysostosis branchial arch or oral-acral syndrome syndromic palpebral coloboma Pierre robin syndrome associated with branchial archs anomalies malposition of external canthus
UniProt disease ID	wds:Q12811075-cad981ab-4b5d-2e38-0a48-646286069d1b
Orphanet ID	wds:Q12811075-13D8FDD0-F693-439D-AB2E-75D2E89B0EAB
genetic association	wds:Q12811075-DD2690CD-599F-4A1C-99EC-F34311E5EEE0
ICD-10-CM	wds:Q12811075-683BDDF7-743A-4342-AD8F-D8958CD3BEAB
PatientsLikeMe condition ID	wds:Q12811075-c77b0833-48b9-c28c-eedc-a07345061c41
GARD rare disease ID	wds:Q12811075-C56F2934-88E1-4A0B-A8E3-62472513DA48
OMIM ID	wds:Q12811075-8072F75F-BEC4-42E6-B2B2-54ADEA79863D
Genetics Home Reference Conditions ID	wds:Q12811075-2C804DEF-15F5-460B-848B-ADC8E8E07B05
UniProt disease ID	DI-03474
Orphanet ID	245
genetic association	SF3B4
ICD-10-CM	Q75.4
PatientsLikeMe condition ID	nager-syndrome
GARD rare disease ID	498
OMIM ID	154400
Genetics Home Reference Conditions ID	nager-syndrome
Commons category	wds:Q12811075-9C188AC3-F102-42EB-8475-817E87D30AF2
Commons category	Nager acrofacial dysostosis
skos:altLabel	AFD (en) AFD1 (en) acrofacial dysostosis 1, Nager type (en) acrofacial dysostosis (en) Nager syndrome (en) ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 (en) Afd, Nager Type (en) NAFD (en) Nager Acrofacial Dysostosis (en) Nager acrofacial dysostosis syndrome (en) Preaxial acrodysostosis (en) Split hand deformity-mandibulofacial dysostosis (en) Mandibulofacial dysostosis with preaxial limb anomalies (en) Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies (en) preaxial acrofacial dysostosis (en) preaxial manibulofacial dysostosis (en) syndrome de Nager (fr)
NCI Thesaurus ID	wds:Q12811075-46F8C98C-C6ED-40D8-996D-6C5B365E01C7
UMLS CUI	wds:Q12811075-30DA11F0-ABC6-4885-9BE8-11910A064AA8 wds:Q12811075-D78F1ABC-9E35-491D-9470-77AA3E0598ED
MeSH descriptor ID	wds:Q12811075-A3DA2CED-388E-4BC6-9F34-ACA271B5313E
on focus list of Wikimedia project	wds:Q12811075-9DF40831-E2BE-4701-8B6E-3CABCFBF68C8
Microsoft Academic ID	wds:Q12811075-0EAB5114-F748-4551-AE11-D239A8734071
ICD-11 (foundation)	wds:Q12811075-67287B27-4102-4FA9-BCE4-EB74C1C32E15
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538184

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