DOPATREE
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DOPATREE
CONDITIONS
CONDITIONS / TYPES BY COMMON MEDICAL GROUPINGS
RARE DISEASES-ALL (SYNDROMES, GENETIC CONDITIONS, ORPHAN DRUG DESIGNATIONS, INHERITED, SYNDROMES, MULTISYSTEM, INBORN ERRORS, CHROMOSOMAL, MULTIPLE DISORDERS, MULTI-SYSTEMS, ULTRA-RARE)
RARE DISEASES / LISTINGS-K
Parents
RARE DISEASES-ALL (SYNDROMES, GENETIC CONDITIONS, ORPHAN DRUG DESIGNATIONS, INHERITED, SYNDROMES, MULTISYSTEM, INBORN ERRORS, CHROMOSOMAL, MULTIPLE DISORDERS, MULTI-SYSTEMS, ULTRA-RARE)
Children
KABUKI SYNDROME (NIIKAWA-KUROKI SYNDROME, NKS, KABUKI MAKE UP SYNDROME , KMS)
KALLIKREIN HYPERTENSION (KALLIKREIN ATTENUATED HYPERTENSION)
KALLMANN SYNDROME (ANOSMIC HYPOGONADISM, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA)
KANZAKI DISEASE (SCHINDLER DISEASE TYPE 2, ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2)
KAPLAN PLAUCHU FITCH SYNDROME (ACROCRANIOFACIAL DYSOSTOSIS)
KAPOSIFORM HEMANGIOENDOTHELIOMA (KH)
KAPOSIFORM LYMPHANGIOMATOSIS (KLA)
KAPUR TORIELLO SYNDROME (LONG COLUMELLA WITH CLEFT LIP / PALATE AND EYE, HEART AND INTESTINAL ANOMALIES)
KARAK SYNDROME
KAT6A SYNDROME
KAUFMAN OCULOCEREBROFACIAL SYNDROME (KOS)
KBG SYNDROME (MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES)
KCNQ2-RELATED DISORDERS (ENCEPHALOPATHY, KCNQ2E, KCNQ2-RELATED NEONATAL EPILEPTIC ENCEPHALOPATHY, KCNQ2-NEE, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, EIEE7)
KENNY-CAFFEY SYNDROME TYPE 1 (KCS1, AUTOSOMAL RECESSIVE)
KENNY-CAFFEY SYNDROME TYPE 2 (KCS2, DWARFISM, CORTICAL THICKENING OF TUBULAR BONES AND TRANSIENT HYPOCALCEMIA, AUTOSOMAL DOMINANT)
KERATITIS–ICHTHYOSIS–DEAFNESS SYNDROME (KID SYNDROME, KERATITIS ICHTHYOSIS DEAFNESS SYNDROME, ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS SYNDROME)
KERATODERMA WITH WOOLLY HAIR (KWWH)
KERATOSIS FOLLICULARIS DWARFISM AND CEREBRAL ATROPHY (DWARFISM, CEREBRAL ATROPHY AND GENERALIZED KERATOSIS FOLLICULARIS)
KERION CELSI (TRICHOPHYTON INFECTION)
KERNICTERUS (BILIRUBIN ENCEPHALOPATHY, HYPERBILIRUBINEMIC ENCEPHALOPATHY, KERNICTERUS SPECTRUM DISORDER)
KESHAN DISEASE
KEUTEL SYNDROME (ULMONIC STENOSIS BRACHYTELEPHALANGISM AND CALCIFICATION OF CARTILAGES SYNDROME)
KIENBOCK'S DISEASE (KIENBÖCK'S DISEASE)
KIF1A-RELATED DISORDER (KIF1A-ASSOCIATED NEUROLOGICAL DISORDER, KAND)
KING DENBOROUGH SYNDROME (KDS, ANESTHETIC-INDUCED MALIGNANT HYPERPYREXIA IN CHILDREN, KING SYNDROME)
KLATSKIN TUMOR (PERIHILAR CHOLANGIOCARCINOMA, TUMOUR)
KLEINER HOLMES SYNDROME (HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY SYNDROME)
KLINEFELTER SYNDROME (KS, XXY SYNDROME, CHROMOSOME XXY TRISOMY)
KLIPPEL FEIL SYNDROME (KFS, CERVICAL VERTEBRAL FUSION SYNDROME, CONGENITAL CERVICAL SYNOSTOSIS)
KLIPPEL-TRENAUNAY SYNDROME (KTS, KLIPPEL-TRENAUNAY-WEBER SYNDROME, KTW SYNDROME, ANGIO-OSTEOHYPERTROPHY SYNDROME, CONGENITAL DYSPLASTIC ANGIOPATHY, KLIPPEL-TRENAUNAY DISEASE)
KLUMPKE PARALYSIS (LOWER BRACHIAL PLEXUS PALSY, DEJERINE-KLUMPKE PALSY, KLUMPKE'S PALSY)
KNIEST DYSPLASIA (CHONDRODYSTROPHY, METATROPIC DWARFISM, SWISS CHEESE CARTILAGE SYNDROME)
KNOBLOCH SYNDROME (MYOPIA RETINAL DETACHMENT ENCEPHALOCELE, KNOBLOCH-LAYER SYNDROME, RETINAL DETACHMENT-OCCIPITAL ENCEPHALOCELE SYNDROME)
KNOBLOCK SYNDROME (MYOPIA RETINAL DETACHMENT ENCEPHALOCELE)
KOCHER-DEBRE-SEMELAIGNE SYNDROME (MUSCULAR PSEUDOHYPERTROPHY-HYPOTHYROIDISM SYNDROME)
KOHLER DISEASE (KOHLER'S DISEASE, ASEPTIC NECROSIS OF THE TARSAL BONE, KOHLER'S DISEASE OF THE TARSAL NAVICULAR, NAVICULAR OSTEOCHONDROSIS)
KOHLSCHUTTER TONZ SYNDROME (EPILEPSY-DEMENTIA-AMELOGENESIS IMPERFECTA SYNDROME, SLC13A5 EPILEPTIC ENCEPHALOPATHY, SLC13A5 DEFICIENCY, CITRATE TRANSPORTER DISORDER)
KOONE RIZZO ELIAS SYNDROME (ICHTHYOSIS, MENTAL RETARDATION AND ASYMPTOMATIC SPASTICITY)
KOSZTOLANYI SYNDROME (ARACHNODACTYLY, ABNORMAL OSSIFICATION AND MENTAL RETARDATION)
KOTZOT-RICHTER SYNDROME (OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES, ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS)
KOWARSKI SYNDROME
KOZLOWSKI WARREN FISHER SYNDROME (CLOVERLEAF SKULL GENERALISED BONE DYSPLASIA)
KOZLOWSKI-KRAJEWSKA SYNDROME (INTELLECTUAL DISABILITY-POLYDACTYLY-UNCOMBABLE HAIR SYNDROME)
KRUKENBERG CARCINOMA (KRUKENBERG’S TUMOR, TUMOUR)
KUSKOKWIM DISEASE (ARTHROGRYPOSIS-LIKE SYNDROME)
KUZNIECKY ANDERMANN SYNDROME
KYPHOMELIC DYSPLASIA (CONGENITAL BOWING WITH SHORT BONES)