Rare Disease Library

Disorder of purine or pyrimidine metabolism

Disorder of pyridoxine metabolism

Disorder of pyrimidine metabolism

Disorder of serine or glycine metabolism

Disorder of sialic acid metabolism

Disorder of the gamma-glutamyl cycle

Disorder of thiamine metabolism and transport

Disorder of tryptophan metabolism

Disorder of tyrosine metabolism

Disorder of urea cycle metabolism and ammonia detoxification

Disorder of vitamin and non-protein cofactor absorption and transport

Disorder of zinc metabolism and transport

Disorder with multisystemic involvement and glomerulopathy

Disorder with multisystemic involvement and primary lymphedema

Disorder with optic nerve compression

Disorders of pentose/polyol metabolism

Disorders of vitamin D metabolism

Dissecting cellulitis of the scalp

Disseminated peritoneal leiomyomatosis

DPL · Diffuse peritoneal leiomyomatosis

Disseminated superficial actinic porokeratosis

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal arthrogryposis

Distal arthrogryposis type 1

Digitotalar dysmorphism · DA1

Distal arthrogryposis type 10

DA10 · Plantar flexion contracture

Distal arthrogryposis type 5D

DA5D · Distal arthrogryposis type 5 without ophthalmoparesis

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter