Rare Disease Library

3q29 microduplication syndrome

Trisomy 3q29

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p inverted duplication/deletion syndrome

Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Absence deformity of leg-cataract syndrome

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

Acute ackee fruit intoxication

Acute intoxication by Blighia sapida · Jamaican vomiting sickness

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia · AML

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia · AML

Acute opioid intoxication

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Asbestos intoxication

Asbestosis

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Cardiomyopathy-cataract-hip spine disease syndrome

Krasnow-Qazi syndrome

Caudal duplication

Dipygus · Split notochord syndrome

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

Cerulean cataract

Blue-dot cataract

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Chromosomal anomaly with cataract

Cleidocranial dysplasia and isolated cranial ossification defect

Cocaine intoxication

Cochleosaccular degeneration-cataract syndrome

Communicating congenital bronchopulmonary-foregut malformation

Complication after organ transplantation

Complication in hemodialysis

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Congenital cataract microcornea with corneal opacity

CCMCO

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

Congenital elbow dislocation, bilateral

Congenital elbow dislocation, unilateral

Congenital joint dislocations

Congenital knee dislocation

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome