Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	MONDO_0019178	[The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.]
palpebral epidermal tumor	MONDO_0020172	[A neoplasm (disease) that involves the skin of eyelid.]
obsolete_spinocerebellar ataxia type 28	Orphanet_101109
obsolete infantile Refsum disease	MONDO_0019174	[OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).]
obsolete_spinocerebellar ataxia type 23	Orphanet_101108
epithelium of esophagus	UBERON_0001976	[The epithelial layer that lines the luminal space of the esophagus.]
obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	Orphanet_308684
obsolete_Marin-Amat syndrome	Orphanet_101104
obsolete_Charcot-Marie-Tooth disease type 2B2	Orphanet_101101
Charcot-Marie-Tooth disease type 2H	Orphanet_101102
palpebral nevus	MONDO_0020179	[A melanocytic nevus that involves the skin of eyelid.]
pigmented palpebral tumor	MONDO_0020177
palpebral sebaceous gland tumor	MONDO_0020176	[A neoplasm (disease) that involves the sebaceous gland of eyelid.]
eyelid cancer	MONDO_0021313	[A cancer that involves the eyelid.]
bladder diverticulum	MONDO_0007197
Ascher syndrome	MONDO_0007198	[Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.]
precancerous lesion of palpebral epidermis	MONDO_0020174	[A precancerous condition that involves the skin of eyelid.]
alive	PATO_0001421
Axenfeld-Rieger syndrome	MONDO_0019187	[Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.]
telangiectasis	MONDO_0001576	[Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.]