Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Patchy sclerosis of 2nd finger phalanx	HP_0009551	[Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.]
Low maternal serum alpha-fetoprotein	HP_0010570	[An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.]
Abnormal maternal serum screening	HP_0011436	[An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.]
Elevated levels of phytanic acid	HP_0010571	[An abnormal elevation of phytanic acid.]
Elevated circulating long chain fatty acid concentration	HP_0003455	[Increased concentration of long-chain fatty acids in the blood circulation.]
Abnormal circulating phytanic acid level	HP_0010965	[Any deviation from the normal concentration of phytanic acid in the blood circulation.]
Symphalangism affecting the proximal phalanx of the 2nd finger	HP_0009586	[Fusion of the proximal phalanx of the 2nd finger with another bone.]
Symphalangism of the 2nd finger	HP_0009545
Triangular shaped proximal phalanx of the 2nd finger	HP_0009587	[Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.]
Triangular shaped phalanges of the 2nd finger	HP_0009546	[Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.]
Central nervous system cyst	HP_0030724	[A fluid-filled sac (cyst) located within the central nervous system.]
Neoplasm of the inner ear	HP_0040096	[A tumor (abnormal growth of tissue) of the inner ear.]
Bilateral vestibular Schwannoma	HP_0009589	[A bilateral vestibular Schwannoma (acoustic neurinoma).]
Abnormality of the epiphysis of the femoral head	HP_0010574	[Any abnormality of the proximal epiphysis of the femur.]
Dysplasia of the femoral head	HP_0010575	[The presence of developmental dysplasia of the femoral head.]
Occasional neurofibromas	HP_0009595	[Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.]
Aplasia of the proximal phalanx of the 2nd finger	HP_0009596	[Absence of the proximal phalanx of the 2nd finger.]
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	HP_0009580
Short proximal phalanx of the 2nd finger	HP_0009597	[Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.]
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal	HP_0009598	[Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.]