|
Aplasia of the proximal phalanx of the 2nd toe
|
HP_0010436 |
|
|
Aplasia of the phalanges of the 2nd toe
|
HP_0010430 |
|
|
Reduced circulating 3-ketoacyl-CoA thiolase concentration
|
HP_0034407 |
[Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.] |
|
non-striated muscle cell
|
CL_0008000 |
[Any muscle cell in which the fibers are not organised into sarcomeres.] |
|
Solitary angiokeratoma
|
HP_0034408 |
[A dark, keratotic papule about 2-10 mm in diameter, usually occurring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.] |
|
hematopoietic precursor cell
|
CL_0008001 |
[Any hematopoietic cell that is a precursor of some other hematopoietic cell type.] |
|
hematopoietic cell
|
CL_0000988 |
[A cell of a hematopoietic lineage.] |
|
Fordyce angiokeratoma
|
HP_0034409 |
[A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.] |
|
Broad proximal phalanx of the 3rd finger
|
HP_0009450 |
[Increased width of the proximal phalanx of the 3rd finger.] |
|
Abnormality of the proximal phalanx of the 3rd finger
|
HP_0009358 |
|
|
Curved phalanges of the hand
|
HP_0009770 |
|
|
Curved fingers
|
HP_0004095 |
|
|
Osteolytic defects of the phalanges of the hand
|
HP_0009771 |
[Dissolution or degeneration of bone tissue of the phalanges of the hand.] |
|
Circumferential skin creases on extremities
|
HP_0034400 |
[Ringed creases of the skin of the extremities related to folding of excess skin.] |
|
Short distal phalanx of the 2nd toe
|
HP_0010433 |
[Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.] |
|
Aplasia of the middle phalanx of the 2nd toe
|
HP_0010434 |
|
|
Atypical teratoid/rhabdoid tumor
|
HP_0034401 |
[An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.] |
|
Symphalangism affecting the phalanges of the hand
|
HP_0009773 |
[Fusion of two or more phalangeal bones of the hand.] |
|
Finger symphalangism
|
HP_0009700 |
[An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.] |
|
Rhabdoid tumor of the kidney
|
HP_0034402 |
[A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.] |