Rare Disease Library

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemihyperplasia-multiple lipomatosis syndrome

HHML

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Linear verrucous nevus syndrome

Linear hamartoma syndrome

Multiple evanescent white dot syndrome

MEWDS

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Multiple pterygium syndrome

Multiple pterygium syndrome, Aslan type

Multiple synostoses syndrome

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

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

PTEN hamartoma tumor syndrome

PHTS

Steatocystoma multiplex-natal teeth syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome