Rare Disease Library

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

H syndrome

Heart defects-limb shortening syndrome

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome, Slovenian type

Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

Hermansky-Pudlak syndrome type 8

HPS8

Hermansky-Pudlak syndrome type 9

HPS9

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypoplastic left heart syndrome

HLHS

Isolated hemihyperplasia

Hemi 3 syndrome · Hemicorporal hypertrophy

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb-mammary syndrome

LMS

Linear verrucous nevus syndrome

Linear hamartoma syndrome

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Parana hard skin syndrome

Hard skin syndrome, Parana type

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations