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Items: 9

1.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
2.

Osteolytic defects of the phalanges of the hand

Dissolution or degeneration of bone tissue of the phalanges of the hand. [from HPO]

MedGen UID:
429018
Concept ID:
CN008629
Finding
3.

Distal osteosclerosis

MedGen UID:
338863
Concept ID:
C1852063
Disease or Syndrome
4.

Acroosteolysis

A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME. [from MeSH]

MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
5.

Distal Acroosteolysis

MedGen UID:
851823
Concept ID:
CN233183
Finding
6.

Osteolytic defects of the distal phalanges of the hand

MedGen UID:
447131
Concept ID:
CN008696
Finding
7.

Short phalanx of finger

Short (hypoplastic) phalanx of finger, affecting one or more phalanges. [from HPO]

MedGen UID:
447122
Concept ID:
CN008660
Finding
8.

Chess-pawn distal phalanges

MedGen UID:
349430
Concept ID:
C1862097
Finding
9.

Pyknodysostosis

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. [from MeSH]

MedGen UID:
116061
Concept ID:
C0238402
Congenital Abnormality; Disease or Syndrome
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