Rare Disease Library

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

Distal myopathy

Distal muscular dystrophy

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

Distal myopathy with early respiratory muscle involvement

Distal myopathy, Tateyama type

Distal myopathy, Welander type

WDM

Distal myotilinopathy

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Distal renal tubular acidosis with anemia

dRTA with anemia

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

Distal triplication 15q syndrome

Distal tetrasomy 15q · Tetrasomy 15(q25-qter)

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Distomatosis

Distomiasis · Fluke infection

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

Aseptic abscess syndrome

Aseptic abscesses syndrome · Aseptic systemic abscesses

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections

Congenitally uncorrected transposition of the great arteries

Transposition of the great vessels · Discordant ventriculoarterial connections

Deep dermatophytosis

Disseminated granulomatous dermatophytosis

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development of gynecological interest

DSD of gynecological interest · Disorder of sex development of gynecological interest