Disease Index
9,486 diseasespartial monosomy of the short arm of chromosome 17
human disease
partial monosomy of the short arm of chromosome 20
human disease
partial monosomy of the short arm of chromosome X
human disease
partial pancreatic agenesis
pancreas disease that is characterized by the failure of the pancreas to develop prior to birth
ICD: Q45.0
partial septate uterus
partial trisomy distal 4q
chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has material basis in duplication of the distal portion of chromosome 4q
partial trisomy of chromosome 20
human disease
partial trisomy of the long arm of chromosome 16
human disease
partial trisomy of the long arm of chromosome 18
human disease
partial trisomy of the long arm of chromosome 20
human disease
partial trisomy of the long arm of chromosome 5
human disease
partial trisomy of the long arm of chromosome 9
human disease
partial trisomy of the short arm of chromosome 9
human disease
partial trisomy/tetrasomy of chromosome 18
human disease
partial trisomy/tetrasomy of chromosome 5
human disease
partial trisomy/tetrasomy of chromosome 9
human disease
partial trisomy/tetrasomy of the short arm of chromosome 12
human disease
partial trisomy/tetrasomy of the short arm of chromosome 18
human disease
partial trisomy/tetrasomy of the short arm of chromosome 5
human disease
partially involuting congenital hemangioma
clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion
Partington X-linked mental retardation syndrome
syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria
MeSH: C536300
Partington-Anderson syndrome
human disease
MeSH: C536299
Pascual-Castroviejo syndrome
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities
MeSH: C565862
Pashayan syndrome
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability
MeSH: C536303
Patau syndrome
human disease
MeSH: D000073839
patella aplasia/hypoplasia
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date
MeSH: C535568
patella aplasia/hypoplasia, bilateral
human disease
patella aplasia/hypoplasia, unilateral
human disease
patellar dysostosis
human disease
patent ductus arteriosus
condition wherein the ductus arteriosus fails to close after birth
MeSH: D004374