Rare Disease Library

Anorectal malformation

ARM

X-linked intellectual disability, Armfield type

Armfield syndrome

Autoimmune hemolytic anemia, warm type

Warm AIHA · wAHA

Cutis marmorata telangiectatica congenita

CMTC

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

OBSOLETE: Congenital absence of both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral

OBSOLETE: Congenital absence of both forearm and hand, unilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral

OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral

OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral

OBSOLETE: Dysharmonic micromelia

OBSOLETE: Farmer's lung disease

OBSOLETE: Harmonic micromelia

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

Partial deletion of the long arm of chromosome 17 syndrome

Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q

Partial deletion of the long arm of chromosome 18 syndrome

Partial deletion of chromosome 18q · Partial monosomy of chromosome 18q

Partial deletion of the long arm of chromosome 19 syndrome

Partial deletion of chromosome 19q · Partial monosomy of chromosome 19q

Partial deletion of the long arm of chromosome 2 syndrome

Partial deletion of chromosome 2q · Partial monosomy of chromosome 2q

Partial deletion of the long arm of chromosome 20 syndrome

Partial monosomy of the long arm of chromosome 20 · Partial deletion of chromosome 20q

Partial deletion of the long arm of chromosome 21 syndrome

Partial deletion of chromosome 21q · Partial monosomy of chromosome 21q

Partial deletion of the long arm of chromosome 22 syndrome

Partial deletion of chromosome 22q · Partial monosomy of chromosome 22q

Partial deletion of the long arm of chromosome 3 syndrome

Partial deletion of chromosome 3q · Partial monosomy of chromosome 3q

Partial deletion of the long arm of chromosome 4 syndrome

Partial deletion of chromosome 4q · Partial monosomy of chromosome 4q

Partial deletion of the long arm of chromosome 5 syndrome

Partial deletion of chromosome 5q · Partial monosomy of chromosome 5q

Partial deletion of the long arm of chromosome 6 syndrome

Partial deletion of chromosome 6q · Partial monosomy of chromosome 6q

Partial deletion of the long arm of chromosome 7 syndrome

Partial deletion of chromosome 7q · Partial monosomy of chromosome 7q

Partial deletion of the long arm of chromosome 8 syndrome

Partial deletion of chromosome 8q · Partial monosomy of chromosome 8q

Partial deletion of the long arm of chromosome 9 syndrome

Partial deletion of chromosome 9q · Partial monosomy of the long arm of chromosome 9

Partial deletion of the long arm of chromosome X syndrome

Partial deletion of chromosome Xq · Partial monosomy of chromosome Xq

Partial deletion of the short arm of chromosome 1 syndrome

Partial deletion of chromosome 1p · Partial monosomy of chromosome 1p

Partial deletion of the short arm of chromosome 10 syndrome

Partial deletion of chromosome 10p · Partial monosomy of chromosome 10p

Partial deletion of the short arm of chromosome 11 syndrome

Partial deletion of chromosome 11p · Partial monosomy of chromosome 11p

Partial deletion of the short arm of chromosome 12 syndrome

Partial deletion of chromosome 12p · Partial monosomy of chromosome 12p

Partial deletion of the short arm of chromosome 16 syndrome

Partial deletion of chromosome 16p · Partial monosomy of chromosome 16p

Partial deletion of the short arm of chromosome 17 syndrome

Partial deletion of chromosome 17p · Partial monosomy of the short arm of chromosome 17

Partial deletion of the short arm of chromosome 18 syndrome

Partial deletion of chromosome 18p · Partial monosomy of chromosome 18p

Partial deletion of the short arm of chromosome 19 syndrome

Partial deletion of chromosome 19p · Partial monosomy of chromosome 19p

Partial deletion of the short arm of chromosome 2 syndrome

Partial deletion of chromosome 2p · Partial monosomy of chromosome 2p

Partial deletion of the short arm of chromosome 20 syndrome

Partial deletion of chromosome 20p · Partial monosomy of the short arm of chromosome 20