Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Coffin-Siris syndrome	MONDO_0015452	[Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.]
Spondyloepimetaphyseal dysplasia - hypotrichosis	Orphanet_168443
obsolete_combined oxidative phosphorylation defect type 2	Orphanet_254920
lice infestation	MONDO_0003472	[A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.]
spinal cord ependymoma	MONDO_0003473	[An ependymoma that arises from the spinal cord.]
obsolete_spondyloepimetaphyseal dysplasia, Bieganski type	Orphanet_168448
Diffuse mesangial sclerosis	HP_0001967	[Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.]
craniosynostosis-cataract syndrome	MONDO_0015468
Leukocytosis	HP_0001974	[An abnormal increase in the number of leukocytes in the blood.]
craniosynostosis, Philadelphia type	MONDO_0015467	[Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.]
cranio-osteoarthropathy	MONDO_0015466	[Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.]
craniofrontonasal dysplasia-Poland anomaly syndrome	MONDO_0015464	[Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.]
craniodigital syndrome-intellectual disability syndrome	MONDO_0015463	[Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.]
thin ribs-tubular bones-dysmorphism syndrome	MONDO_0015462
obsolete_number of children ever born measurement	EFO_000910
obsolete_combined oxidative phosphorylation defect type 7	Orphanet_254930
obsolete_Coats plus syndrome	Orphanet_313838	[Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.]
Reduced antithrombin III activity	HP_0001976	[An abnormality of coagulation related to a decreased concentration of antithrombin-III.]
cryptosporidiosis	MONDO_0015474	[Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.]
cryptorchidism-arachnodactyly-intellectual disability syndrome	MONDO_0015473	[Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.]