Rare Disease Library

Desmoplastic small round cell tumor

DSRCT

Diaphragmatic or abdominal wall malformation

Diphallia

Dwarfism-tall vertebrae syndrome

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Fetal and neonatal alloimmune thrombocytopenia

FNAIT · NAIT

Gallbladder neuroendocrine tumor

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

Genetic cerebral small vessel disease

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

Hall-Riggs syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Hallermann-Streiff-like syndrome

Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Hemolytic disease due to fetomaternal alloimmunization

HDFN · Hemolytic disease of the fetus and newborn

Hemolytic disease of the newborn with Kell alloimmunization

Anti-K HDN · Maternal anti-Kell alloimmunization

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

Hereditary sodium channelopathy-related small fibers neuropathy

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Idiopathic small fibers neuropathy

Idiopathic-SFN

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

Da Silva syndrome

Intermediate severe Salla disease

Isolated agenesis of gallbladder

Isolated congenitally uncorrected transposition of the great arteries

Isolated congenitally uncorrected transposition of the great vessels

Isolated corpus callosum agenesis

Isolated gallbladder duplication

Isolated small intestine duplication

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Kallmann syndrome-heart disease syndrome

Leiomyosarcoma of small intestine

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Macular coloboma-cleft palate-hallux valgus syndrome

Malignant tumor of fallopian tubes

Cancer of fallopian tubes · Malignant tubal tumor

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Mesenchymal tumor of small intestine

Mesenchymal tumor of small bowel

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder