Rare Disease Library

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Fryns-Smeets-Thiry syndrome

Genetic syndrome with limb reduction defects

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

GEMSS syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Heart defects-limb shortening syndrome

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hereditary thrombocytopenia with normal platelets

High-grade dysplasia in patients with Barrett esophagus

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome

Hypocalcemic rickets

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypocalcemic vitamin D-resistant rickets

HVDRR · Hereditary vitamin D-resistant rickets

Hypophosphatemic rickets

Hypothyroidism due to TSH receptor mutations

Idiopathic malabsorption due to bile acid synthesis defects

Idiopathic bile acid malabsorption

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Isolated lissencephaly type 1 without known genetic defects

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

Leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

Maternal hyperthermia-induced birth defects

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Multisystem inflammatory syndrome in children and adults

MIS-C/A

Mycosis fungoides and variants

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

Myelodysplastic neoplasm with low blasts

MDS · MDS-LB

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

Non-syndromic joint formation defects

OBSOLETE: Abnormal eye movements

OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome

OBSOLETE: Karandikar-Maria-Kamble syndrome