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Terms: night blindness, jaundice, cataracts, etc.
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H
Disorder Name Genes Alternate Names OMIM Inheritance
Hypoparathyroidism, Familial Isolated PTH, GCMB FIH, autosomal dominant hypoparathyroidism, autosomal recessive hypoparathyroidism 146200 autosomal recessive, autosomal dominant
Hypotonia, Infantile, with Psychomotor Retardation CCDC174 IHPMR 616816 autosomal recessive
Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1 NALCN IHPRF1, IHPRF 615419 autosomal recessive
Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 2 UNC80 IHPRF2 616801 autosomal recessive
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 TBCK IHPRF3 616900 autosomal recessive
Hypotrichosis with Juvenile Macular Degeneration CDH3 hypotrichosis with cone-rod dystrophy, HJMD 601553 autosomal recessive
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome SOX18 HLTRS, glomerulonephritis with sparse hair and telangiectases, telangiectatic membranoproliferative glomerulonephritis 137940 autosomal dominant
I
Disorder Name Genes Alternate Names OMIM Inheritance
IFAP (BRESHECK) Syndrome MBTPS2 atrichia, ichthyosis follicularis, BRESHECK syndrome 308205 X-linked recessive
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 CDCA7 ICF3 616910 autosomal recessive
Incontinentia Pigmenti NEMO Bloch-Sulzberger syndrome, IP 308300 X-linked dominant
Infantile Cerebellar-Retinal Degeneration ACO2 IRCD 614559 autosomal recessive
Intellectual Disability with Dysmorphic Facies and Ptosis BRPF1 IDDDFP 617333 autosomal dominant
Iridogoniodysgenesis and Skeletal Anomalies ? 609515 autosomal recessive
Iridogoniodysgenesis, Type 1 FOXC1 IRID1, IGDA, anterior segment dysgenesis 3, autosomal dominant iridogoniodysgenesis anomaly, iris hypoplasia with glaucoma 601631 autosomal dominant
Iridogoniodysgenesis, Type 2 PITX2 IRID2, IGDS, iridogoniodysgenesis syndrome, anterior segment dysgenesis 4, iris hypoplasia with early-onset glaucoma, IHGA 137600 autosomal dominant
J
Disorder Name Genes Alternate Names OMIM Inheritance
Jackson-Weiss Syndrome FGFR2 JWS, craniosynostosis with midfacial hypoplasia and foot abnormalities 123150 autosomal dominant
Jalili Syndrome CNNM4 cone-rod dystrophy and amelogenesis imperfecta 217080 autosomal recessive
Joint Laxity, Short Stature, and Myopia GZF1 JLSM 617662 autosomal recessive
Joubert Syndrome and Related Disorders multiple JSRD, JBTS, Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, cerebellooculorenal syndrome 1 213300 autosomal recessive
K
Disorder Name Genes Alternate Names OMIM Inheritance
Kabuki Syndrome 1 KMT2D KMS, KABUK1, Kabuki make-up syndrome, Niikawa-Kuroki syndrome 147920 autosomal dominant
Kabuki Syndrome 2 KDM6A KABUK2 300867 X-linked
Kahrizi Syndrome SRD5A3 KHRZ, cataract mental retardation coloboma and kyphosis 612713 autosomal recessive
Kaufman Oculocerebrofacial Syndrome UBE3B KOS, BPIDS, blepharophimosis-ptosis-intellectual disability syndrome 244450 autosomal dominant
Kearns-Sayre Syndrome mitochondrial mitochondrial cytopathy, CPEO with myopathy, CPEO with ragged-red fibers, oculocraniosomatic syndrome, KSS 530000 mitochondrial
Kenny-Caffey Syndrome, Type 2 FAM111A Kenny syndrome, dwarfism with cortical thickening of long bones and transient hypocalcemia, KCS2 127000 autosomal dominant
Keratitis, Hereditary PAX6 148190 autosomal dominant
Keratoconus 1 VSX1 KTCN1 148300 autosomal dominant
Keratoconus 2 16q22.3-q23.1 locus KTCN2 608932 autosomal dominant
Keratoconus 3 3p14-q13 locus KTCN3 608586 autosomal dominant
Keratoconus 4 2p24 locus KTCN4 609271 autosomal dominant
Keratoconus 9 TUBA3D KTCN9 617928 autosomal dominant
Keratoconus Posticus Circumscriptus ? KPC 244600 autosomal recessive?
Keratoendotheliitis Fugax Hereditaria NLRP3 keratitis fugax hereditaria, KEFH 148200 autosomal dominant
Keratosis Follicularis Spinulosa Decalvans, AD ? KFSD 612843 autosomal dominant
Keratosis Follicularis Spinulosa Decalvans, X-Linked SAT1 keratosis follicularis spinulosa decalvans cum ophiasia, KFSDX, Siemens-1 syndrome 308800 X-linked recessive, autosomal dominant?
KID Syndrome GJB2 keratitis-ichthyosis-deafness syndrome, Desmons syndrome, Senter syndrome 242150, 148210 autosomal dominant, autosomal recessive?
Kniest Dysplasia COL2A1 KND 156550 autosomal dominant
Knobloch Syndrome 1 COL18A1 retinal detachment and occipital encephalocele, KNO1 267750 autosomal recessive
Knobloch Syndrome 2 ADAMTS18 KNO2 608454 autosomal recessive?
Knobloch Syndrome 3 17q11.2 locus Knobloch III variant, KNO3 autosomal recessive
Displaying 321 - 360 of 695