Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Triphalangeal thumb - polysyndactyly syndrome	Orphanet_2950	[Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.]
obsolete_hyper-IgM syndrome type 4	Orphanet_101091
obsolete_hyper-IgM syndrome type 5	Orphanet_101092
obsolete_hyper-IgM syndrome type 3	Orphanet_101090
thrombocytopenia 1	MONDO_0010743
pentalogy of Cantrell	MONDO_0010742	[Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.]
chondrodysplasia	MONDO_0022723
axial vasculature	UBERON_2001073
Niemann-Pick disease type A	MONDO_0009756	[Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.]
hereditary spastic paraplegia 2	MONDO_0010733	[Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.]
X-linked hyper-IgM syndrome	Orphanet_101088
intestinal bulb	UBERON_2001076	[This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area. Wallace et al, 2005.]
Kennedy disease	MONDO_0010735	[Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.]
obsolete_hyper-IgM syndrome type 2	Orphanet_101089
spondylometaphyseal dysplasia, Golden type	MONDO_0010738	[Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.]
obsolete_Charcot-Marie-Tooth disease type 1D	Orphanet_101084
obsolete_Charcot-Marie-Tooth disease type 1F	Orphanet_101085
ulnar hypoplasia-split foot syndrome	MONDO_0010750	[Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.]
VACTERL association, X-linked, with or without hydrocephalus	MONDO_0010752
van den Bosch syndrome	MONDO_0010754	[Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.]