Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
laminopathy	MONDO_0021106	[A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.]
chondrodysplasia punctata, Toriello type	MONDO_0008973	[Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.]
non-rhizomelic chondrodysplasia punctata	MONDO_0015775	[Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.]
rhizomelic chondrodysplasia punctata type 1	MONDO_0008972	[A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.]
rhizomelic chondrodysplasia punctata	MONDO_0015776	[Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.]
peroxisome biogenesis disorder due to PEX7 defect	MONDO_0100272	[Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.]
chondrodysplasia Blomstrand type	MONDO_0008970	[Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.]
neonatal osteosclerotic dysplasia	MONDO_0019702
Hirschsprung disease	MONDO_0018309	[Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.]
intestinal motility disease	MONDO_0021189	[A disease that has its basis in the disruption of intestinal motility.]
Cerebral calcification	HP_0002514	[The presence of calcium deposition within brain structures.]
Abnormality of the skeletal system	HP_0000924	[An abnormality of the skeletal system.]
chronic granulomatous disease	MONDO_0018305	[Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.]
phagocyte bactericidal dysfunction	EFO_0007433	[Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas., A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.]
defective phagocytic cell engulfment	MONDO_0024626
Spastic tetraplegia	HP_0002510	[Spastic paralysis affecting all four limbs.]
Spasticity	HP_0001257	[A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.]
neurodegeneration with brain iron accumulation	MONDO_0018307	[Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.]
iron metabolism disease	MONDO_0002279	[Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.]
neuroaxonal dystrophy	MONDO_0002283	[A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)]