Rare Disease Library

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Angelman syndrome

Angelman syndrome due to a point mutation

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Asherman syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Christianson syndrome

X-linked Angelman-like syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Delayed membranous cranial ossification

Gonzales-del Angel syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Hinman syndrome

HAS · HS

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Lateral meningocele syndrome

Lehman syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive supranuclear palsy

PSP syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

Pseudo-Zellweger syndrome

Thiolase deficiency

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome