Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cerebellar ataxia	MONDO_0000437	[A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.]
obsolete_X-linked non progressive cerebellar ataxia	Orphanet_314978
Postia placenta	NCBITaxon_104341
Autosomal recessive systemic lupus erythematosus	Orphanet_300345
Rare genetic systemic or rheumatologic disease	Orphanet_271870
SARS-CoV-2-related disease	MONDO_0100318	[A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.]
obsolete_classic pantothenate kinase-associated neurodegeneration	Orphanet_216866
chronic rhinitis	MONDO_0004514	[Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.]
post-COVID-19 disorder	MONDO_0100320	[A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.]
non-Zellweger spectrum disorder	MONDO_0100322	[A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.]
peroxisome biogenesis disorder	MONDO_0019234	[Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).]
odontochondrodysplasia 1	MONDO_0100325	[A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.]
uncultured organism	NCBITaxon_155900
Hermansky-Pudlak syndrome with pulmonary fibrosis	MONDO_0016501	[Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.]
Hermansky-Pudlak syndrome	MONDO_0019312	[Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.]
Hermansky-Pudlak syndrome without pulmonary fibrosis	MONDO_0016502	[Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.]
obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2P	Orphanet_300319
Handgrip myotonia	HP_0012899	[Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.]
obsolete_congenital cataract-hearing loss-severe developmental delay syndrome	Orphanet_300313
mixed endometrial stromal and smooth muscle tumor	MONDO_0004526	[A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.]