Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dense granule disease	MONDO_0020118
syndromic oculocutaneous albinism	MONDO_0017305	[A oculocutaneous albinism that is part of a larger syndrome.]
genetic hemophagocytic lymphohistiocytosis	MONDO_0015541	[Genetic hemophagocytic lymphohistiocytosis.]
ventricular enlargement measurement	EFO_0010570	[A quantification of some aspect of the enlargement of the ventricles of the brain.]
brain ventricle	UBERON_0004086	[One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid.]
Ventriculomegaly	HP_0002119	[An increase in size of the ventricular system of the brain.]
Griscelli syndrome type 1	MONDO_0008962	[A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.]
Griscelli syndrome	MONDO_0018306	[Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).]
brain inflammatory disease	MONDO_0015144	[An inflammatory disease involving a pathogenic inflammatory response in the brain.]
metapterygoid	UBERON_2000240	[Endochondral bone that forms the posteriormost element of the palatal complex. It overlies the quadrate and symplectic, posteriorly it articulates with the hyomandibula and anteriorly with the entopterygoid and ectopterygoid. It curves dorsally to form the posteroventral surface of the orbit. The metapterygoid is paired.]
digestive system	UBERON_0001007	[Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes.]
palatoquadrate arch	UBERON_0011085	[The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG].]
Charcot-Marie-Tooth disease type 4A	MONDO_0008961	[Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.]
Charcot-Marie-Tooth disease recessive intermediate A	MONDO_0012014	[Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.]
Charcot-Marie-Tooth disease type 4	MONDO_0018995	[Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.]
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	MONDO_0008960	[A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.]
autosomal recessive hereditary demyelinating motor and sensory neuropathy	MONDO_0015361
indolin-2-one	CHEBI_31697	[An indolinone carrying an oxo group at position 2.]
phenylalanine	CHEBI_28044
imatinib methanesulfonate	CHEBI_31690