Terminology Service < Semantic Lookup Platform

Label	Id	Description
Rare genetic refraction anomaly	Orphanet_183601
orbit sarcoma	MONDO_0004943	[A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.]
obsolete_dystrophic epidermolysis bullosa, nails only	Orphanet_158676
lipoyl transferase 1 deficiency	MONDO_0014576
obsolete_acral dystrophic epidermolysis bullosa	Orphanet_158673
Salmonella enterica subsp. enterica serovar Typhimurium	NCBITaxon_90371
Salmonella enterica subsp. enterica serovar Typhi	NCBITaxon_90370
Lichtenstein-Knorr syndrome	MONDO_0014572
Genetic eye tumor	Orphanet_183619
Genetic neuro-ophthalmological disease	Orphanet_183616
obsolete_epiblepharon	Orphanet_99169
myoglobin	CHEBI_7044
X-linked spastic paraplegia type 34	Orphanet_171607
X-linked pure spastic paraplegia	MONDO_0017912
obsolete_Kandori fleck retina	Orphanet_99179
Dyspareunia	HP_0030016	[Recurrent or persistent genital pain associated with sexual intercourse.]
obsolete_isolated congenital ectropion	Orphanet_99171
obsolete_tarsal kink syndrome	Orphanet_99170
obsolete_euryblepharon	Orphanet_99172
Isolated distichiasis	Orphanet_99177	[Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.]