Rare Disease Library

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

Arachnoiditis

Adhesive arachnoiditis · Chronic arachnoiditis

Autoimmune hypoparathyroidism

Balantidiasis

Balantidiosis · Ciliary dysentery

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

Central congenital hypothyroidism

Secondary hypothyroidism

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Chronic mucocutaneous candidiasis

CMC

Coccidioidomycosis

California disease · Coccidioides infection

Complete hydatidiform mole

Complete molar pregnancy

Congenital hypothyroidism

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital thyroid malformation without hypothyroidism

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Benthem-Driessen-Hanveld syndrome

Cryptosporidiosis

Cryptosporidium infection

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dihydropyrimidine dehydrogenase deficiency

Familial pyrimidinemia

Dihydropyrimidinuria

Dihydropyrimidinase deficiency

Disorder of histidine metabolism

Disorder of purine or pyrimidine metabolism

Disorder of pyrimidine metabolism

Early-onset idiopathic chronic pancreatitis

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

Familial gestational hyperthyroidism

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Familial idiopathic dilatation of the right atrium

Familial isolated hyperparathyroidism

FIHPT

Familial isolated hypoparathyroidism

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Familial isolated hypoparathyroidism due to impaired PTH secretion

Familial primary hyperparathyroidism

Fetal minoxidil syndrome

Minoxidil antenatal exposure

Genetic hyperparathyroidism

Genetic hypoparathyroidism

Genetic transient congenital hypothyroidism

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Histidinemia

HAL deficiency · HIS deficiency

Histidinuria-renal tubular defect syndrome

Hydatidiform mole

Molar pregnancy

Hyperparathyroidism-jaw tumor syndrome

HPT-JT

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypothyroidism due to deficient transcription factors involved in pituitary development or function