Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mucopolysaccharidosis type 4B	MONDO_0009660	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.]
Kit-positive, CD34-positive common myeloid progenitor	CL_0001023	[A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low.]
common myeloid progenitor	CL_0000049	[A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages.]
CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	CL_0001030
CD115-positive monocyte	CL_0001022	[CD115-positive monocyte is a monocyte that is CD115-positive and CD11b-positive.]
myeloid lineage restricted progenitor cell	CL_0000839	[A progenitor cell restricted to the myeloid lineage.]
monocyte	CL_0000576	[Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.]
Menkes disease	MONDO_0010651	[Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.]
CD34-positive, CD38-positive common lymphoid progenitor	CL_0001021	[A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive.]
CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	CL_0000995
common lymphoid progenitor	CL_0000051	[A oligopotent progenitor cell committed to the lymphoid lineage.]
Melnick-Needles syndrome	MONDO_0010650	[Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.]
CD7-positive lymphoid progenitor cell	CL_0001028	[CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative.]
Renpenning syndrome	MONDO_0010653	[Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.]
CD7-negative lymphoid progenitor cell	CL_0001027	[CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative.]
X-linked intellectual disability-seizures-psoriasis syndrome	MONDO_0010652	[X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.]
CD34-positive, CD38-positive common myeloid progenitor	CL_0001026	[A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative.]
X-linked intellectual disability with marfanoid habitus	MONDO_0010655	[The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.]
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia	Orphanet_71289
Kit-positive, Sca1-positive common lymphoid progenitor	CL_0001025	[A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low.]