Tags
- Adrenoleukodystrophy
- Aicardi syndrome
- Alport syndrome
- Amelogenesis imperfecta
- Androgen insensitivity syndrome
- Aphasia
- Becker muscular dystrophy
- Bone
- Carbohydrate metabolism
- Charcot–Marie–Tooth disease
- CHILD syndrome
- Choroideremia
- Color blindness
- Congenital disorder
- *Corpus Callosum
- COVID-19
- Cutaneous condition
- Danon disease
- DOI
- Duchenne muscular dystrophy
- Dyskeratosis congenita
- Dyslipidemia
- Emery–Dreifuss muscular dystrophy
- Endocrine disease
- Fabry disease
- Fragile X syndrome
- Gait abnormality
- Gene
- GeneReviews
- Genetic carrier
- Genetics
- Glucose-6-phosphate dehydrogenase deficiency
- Haemophilia A
- Haemophilia B
- Hematologic disease
- Hereditary spastic paraplegia
- Hunter syndrome
- Hydrocephalus
- ICD-10
- Immune disorder
- Incontinentia pigmenti
- Intellectual disability
- International Standard Serial Number
- International Statistical Classification of Diseases and Related Health Problems
- L1
- Lesch–Nyhan syndrome
- Lipid storage disorder
- Medical Subject Headings
- Metabolic disorder
- Mineral
- Mucopolysaccharidosis
- Mutation
- National Institutes of Health
- Nephrogenic diabetes insipidus
- Nervous system disease
- Neurology
- Neuromuscular disease
- Online Mendelian Inheritance in Man
- Ornithine transcarbamylase deficiency
- Orphanet
- PubMed
- Rare disease
- Rett syndrome
- Sex linkage
- Sideroblastic anemia
- Simpson–Golabi–Behmel syndrome
- Spasticity
- Specialty
- Tooth
- Urologic disease
- Wiskott–Aldrich syndrome
- X chromosome
- X-linked dominant inheritance
- X-linked hypophosphatemia