Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Nijmegen breakage syndrome	MONDO_0009623	[Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.]
hemophilia B	MONDO_0010604	[Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.]
Jawad syndrome	MONDO_0009622	[Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.]
microcephaly-cervical spine fusion anomalies syndrome	MONDO_0009621	[Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.]
Say-Barber-Miller syndrome	MONDO_0009620	[Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.]
obsolete_disorder of asparagine metabolism	Orphanet_391381
recessive X-linked ichthyosis	MONDO_0010622	[A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.]
inherited ichthyosis	MONDO_0015947	[Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.]
sterol metabolism disorder	MONDO_0019256	[An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process.]
CHILD syndrome	MONDO_0010621	[CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.]
X-linked chondrodysplasia punctata	MONDO_0010556	[X-linked form of chondrodysplasia punctata.]
obsolete_familial episodic pain syndrome with predominantly upper body involvement	Orphanet_391389
obsolete_familial episodic pain syndrome	Orphanet_391384
lysophosphatidylcholine 15:0	CHEBI_72736	[An acyl-sn-glycero-3-phosphocholine in which the acyl group contains fifteen carbons with no double bonds and is attached to the glycero moiety at either position 1 or 2.]
lysophosphatidylethanolamine 22:6	CHEBI_72734	[An acyl-sn-glycero-3-phosphoethanolamine in which the acyl group contains twenty-two carbons with six double bonds and is attached to the glycero moiety at either position 1 or 2.]
Hypotonia - cystinuria syndrome	Orphanet_163690	[Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.]
mitochondrial DNA depletion syndrome 3	MONDO_0009636	[Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.]
Action myoclonus - renal failure syndrome	Orphanet_163696
inborn disorder of glycerol metabolism	MONDO_0019227	[An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process.]
microvillus inclusion disease	MONDO_0009635	[Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.]