Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	MONDO_0014369	[Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.]
melanoma, cutaneous malignant, susceptibility to, 10	MONDO_0014368
autism spectrum disorder due to AUTS2 deficiency	MONDO_0014361	[Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.]
Streptococcus suis 05ZYH33	NCBITaxon_391295
obsolete_paralytic facial malformation	Orphanet_156224
4-guanidinobutanoate	CHEBI_86392	[A monocarboxylic acid anion that is the conjugate base of 4-guanidinobutanoic acid.]
obsolete_6q16 deletion syndrome	Orphanet_171829	[Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.]
Rhagoletis pomonella	NCBITaxon_28610
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	MONDO_0014379	[An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.]
obsolete_hypoglossia/aglossia	Orphanet_156212
obsolete_oromandibular-limb anomalies syndrome	Orphanet_156215
congenital diarrhea 7 with exudative enteropathy	MONDO_0014375	[Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.]
intractable diarrhea of infancy	MONDO_0019126	[Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.]
congenital diarrhea	MONDO_0000824
mucinous adenofibroma	MONDO_0002398	[A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.]
Adenofibroma	EFO_1000070	[A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.]
Amelogenesis imperfecta and gingival hyperplasia syndrome	Orphanet_171836	[This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.]
Rare odontal or periodontal disorder	Orphanet_164001
Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis	Orphanet_171839
5,6-dihydrouracil	CHEBI_15901	[A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil.]