About: ulnar-mammary syndrome

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About: ulnar-mammary syndrome Goto Sponge NotDistinct Permalink

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skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms

Attributes	Values
rdf:type	Item
description	Krankheit (de) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) malaltia humana (ca) skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms (en)
exact match	wds:Q7879712-6A8D7152-23B5-4FCA-B3CB-534D035FF64B wds:Q7879712-74BEA66B-A667-43DE-8457-AAD780363F2A wds:Q7879712-75AA119E-9FB1-4285-B262-1365D46DD54B
exact match	http://purl.obolibrary.org/obo/DOID_0060614 http://identifiers.org/doid/DOID:0060614 http://www.orpha.net/ORDO/Orphanet_3138
health specialty	wds:Q7879712-5478FD96-F4C8-4566-A985-589C8D200820
Mondo ID	wds:Q7879712-CE23797B-7DB3-4E7C-A704-511F81C75773
Disease Ontology ID	wds:Q7879712-0EFA12D7-741E-41CC-9E42-6280CEEDD1B1
symptoms and signs	wds:Q7879712-005C4E0D-34ED-4AD8-A516-833140586283 wds:Q7879712-113CC297-9707-4EDB-809C-DFB76B9AD351 wds:Q7879712-19BCAB1D-B1CA-4D37-8DB2-71BEAFE117C2 wds:Q7879712-2455223B-E796-4588-B612-E4126A1DD918 wds:Q7879712-321D12F1-A2AD-43CB-9691-13F6371DFCBC wds:Q7879712-70DFA83B-A458-4CD6-9633-EAD61835DC3C wds:Q7879712-7C977DD3-3A81-44D4-A48F-8DF41C5553CF wds:Q7879712-89366EEA-8DF9-4BF8-A743-A4616DC1BCB5 wds:Q7879712-8EFDDD70-8CE4-435D-A738-95589705B6F5 wds:Q7879712-C5EC5BB2-01E4-406B-887C-F869E8E57889 wds:Q7879712-CA2E86D0-5047-4F95-B519-BCF874576D55 wds:Q7879712-CD3535E6-D4E6-42F4-908E-9A5F7E2D18D9 wds:Q7879712-D12A69D9-FF11-4733-A414-1968B21F926A wds:Q7879712-D546416E-67F9-4910-9B39-1DAEFA8B818B wds:Q7879712-FAD1751D-0F35-4457-9BE0-5DFAEEAE01EF
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008411
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060614
health specialty	medical genetics
Mondo ID	MONDO_0008411
Disease Ontology ID	DOID:0060614
symptoms and signs	heart arrhythmia imperforate hymen Subglottic stenosis tooth agenesis inguinal hernia imperforate anus micropenis epidemiology of obesity inverted nipple shawl scrotum pyloric stenosis delayed puberty ventricular septal defect breast carcinoma postaxial polydactyly of fingers
rdfs:label	Ulna-Mamma-Syndrom (de) Zespół łokciowo-sutkowy (pl) syndrome cubito-mammaire (fr) síndrome cubital-mamària (ca) ulnar-mammary syndrome (en)
skos:prefLabel	Ulna-Mamma-Syndrom (de) Zespół łokciowo-sutkowy (pl) syndrome cubito-mammaire (fr) síndrome cubital-mamària (ca) ulnar-mammary syndrome (en)
name	Ulna-Mamma-Syndrom (de) Zespół łokciowo-sutkowy (pl) syndrome cubito-mammaire (fr) síndrome cubital-mamària (ca) ulnar-mammary syndrome (en)
instance of	wds:Q7879712-1E6F01F0-56E4-4923-AAD3-688D63312C73 wds:Q7879712-84B5B8DF-6DCD-4730-AE06-A09ABB26C123 wds:Q7879712-C2E93952-E561-4A4F-8FFA-9BCCC8AE50AE wds:Q7879712-EE97DFFF-6FA7-43E0-8094-F0EA6379D22A
instance of	class of disease rare disease genetic disease developmental defect during embryogenesis
subclass of	wds:Q7879712-01572D1C-2DA0-4056-8085-8C15A3EBB497 wds:Q7879712-0273C381-099D-47D1-812D-4F17CE3419A5 wds:Q7879712-0C4BE033-6A45-4CC1-9538-C665F5703F2D wds:Q7879712-9B4DD96E-9653-4BD1-8314-3292F6A79EDA wds:Q7879712-9B857D1A-67B6-4627-9B38-DE405F89060C wds:Q7879712-A6DC6141-FACA-40F0-B753-CE7356A69740 wds:Q7879712-CE5479C6-BD2C-4BC7-8B4A-10E125A6FA7F wds:Q7879712-D4ACBFD6-03E1-44D8-A091-59B2A239EA98 wds:Q7879712-D5CA13B3-C00F-4E2B-A8DA-7B0C8ACA02BB wds:Q7879712-EBE287B9-9676-4960-AB9A-ED25A53AD5DF
subclass of	genetic disease syndrome syndrome with limb reduction defects rare genetic gynecological and obstetrical diseases autosomal dominant disease dysostosis of genetic origin with limb anomaly as a major feature deficient breast volume or number multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome syndromic anorectal malformation rare surgical thoracic disease
KEGG ID	wds:Q7879712-17FF2038-0E2D-4ED8-B6BD-0676A9442BAA
KEGG ID	http://www.kegg.jp/entry/H00637
KEGG ID	H00637
UniProt disease ID	wds:Q7879712-c8e522ee-485b-5158-8999-60963181ddc0
Orphanet ID	wds:Q7879712-2C9FAA45-9BA5-4FCD-AFBD-773ADC71E4EC
ICD-9-CM	wds:Q7879712-063C013E-EC1B-4BD5-AB39-420E497A732C

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