Rare Disease Library

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation

Hypertrophic olivary degeneration

HOD

Hypertrophic or verrucous lupus erythematosus

Hypertryptophanemia

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Hypnic headache

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Westerhof-Beemer-Cormane syndrome

Hypoalphalipoproteinemia

Hypobetalipoproteinemia

Hypocalcemic rickets

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypocalcemic vitamin D-resistant rickets

HVDRR · Hereditary vitamin D-resistant rickets

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Hypochondrogenesis

Hypochondroplasia

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypoglossia/aglossia

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Salti-Salem syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Hypohidrotic ectodermal dysplasia

HED

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypokalemic periodic paralysis

Westphall disease

Hypomandibular faciocranial dysostosis

Hypomaturation amelogenesis imperfecta

Amelogenesis imperfecta type 2

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Amelogenesis imperfecta type 4

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

Hypomyelination neuropathy-arthrogryposis syndrome

Hypomyelination of early myelinating structures

HEMS

Hypomyelination with atrophy of basal ganglia and cerebellum

H-ABC

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

HBSL

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Hypomyelination-congenital cataract syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

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