omimdefinitions

| Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
| Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
| * 173370 PLASMINOGEN ACTIVATOR, TISSUE| PLAT
| ?Thrombophilia due to decreased release of tissue plasminogen (1)
| Mental retardation, autosomal recessive 39, 615541 (3)
| * 607083 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1-LIKE 1| WHSC1L1
| * 109691 BETA-3-ADRENERGIC RECEPTOR| ADRB3
| Werner syndrome, 277700 (3)
| {Alzheimer disease 12} (2)
| Cone-rod dystrophy 9, 612775 (3)
| Spastic paraplegia 54, autosomal recessive, 615033 (3)
| Basal ganglia cancification, idiopathic, 1, 213600 (3)
| Dystonia 6, torsion, 602629 (3)
| Spherocytosis, type 1, 182900 (3)
| Spastic paraplegia 18, autosomal recessive, 611225 (3)
| Immunodeficiency 15, 615592 (3)
| Ataxia, sensory, 1, autosomal dominant, 608984 (3)
| Lipoid adrenal hyperplasia, 201710 (3)
| Pfeiffer syndrome, 101600 (3)
| Jackson-Weiss syndrome, 123150 (3)
| Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)
| Osteoglophonic dysplasia, 166250 (3)
| Trigonocephaly 1, 190440 (3)
| Hartsfield syndrome, 615465 (3)
| Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
| Chromosome 8p11 myeloproliferative syndrome (4)
| Chondrocalcinosis with early-onset osteoarthritis (2)
| Fetal hemoglobin quantitative trait locus 4 (2)
| * 606837 RB1-INDUCIBLE COILED-COIL 1| RB1CC1
| Waardenburg syndrome, type 2D, 608890 (3)
| * 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2| SNAI2
| Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
| Retinitis pigmentosa 1, 180100 (3)
| Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
| Glucocorticoid deficiency 3 (2)
| ?Preauricular fistulae, congenital (2)
| Adenomas, salivary gland pleomorphic, 181030 (3)
| {Mycobacterium tuberculosis, susceptibility to, 2} (2)
| Vesicoureteral reflux 3, 613674 (3)
| {Aneurysm, intracranial berry, 10} (2)
| Traboulsi syndrome, 601552 (3)
| * 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7| CHD7
| {Scoliosis, idiopathic 3}, 608765 (3)
| Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
| Chondrodysplasia with joint dislocations, GRAPP type, 614078 (3)
| Bor-Duane hydrocephalus contiguous gene syndrome (4)
| ?Hydrocephalus, autosomal dominant (2)
| Epilepsy, familial temporal lobe, 5, 614417 (3)
| Febrile seizures, familial, 11, 614418 (3)
| Mesomelia-synostoses syndrome (4)
| Duane retraction syndrome 1 (2)
| Episodic pain syndrome, familial, 615040 (3)
| Febrile seizures, familial, 1 (2)
| Ataxia with isolated vitamin E deficiency, 277460 (3)
| Joubert syndrome 21, 615636 (3)
| Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
| * 601653 EYES ABSENT 1| EYA1
| Branchiootic syndrome 1, 602588 (3)
| ?Otofaciocervical syndrome, 166780 (3)
| * 601445 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9| NDUFB9
| Achromatopsia-3, 262300 (3)
| * 605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3| CNGB3
| Optic atrophy 6 (2)
| Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
| Aldosteronism, glucocorticoid-remediable, 103900 (3)
| Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
| Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
| * 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2| CYP11B2
| Aldosterone to renin ratio raised (3)
| Nijmegen breakage syndrome, 251260 (3)
| Aplastic anemia, 609135 (3)
| Leukemia, acute lymphoblastic, 613065 (3)
| Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
| Peroxisome biogenesis disorder 5B, 614867 (3)
| Chromosome 8q21.11 deletion syndrome (4)
| Charcot-Marie-Tooth disease, type 4A, 214400 (3)
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
| Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
| Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
| * 606940 ZINC FINGER HOMEOBOX 4| ZFHX4
| {Stature QTL 15} (2)
| Meckel syndrome 3, 607361 (3)
| Joubert syndrome 6, 610688 (3)
| * 609884 TRANSMEMBRANE PROTEIN 67| TMEM67
| COACH syndrome, 216360 (3)
| Nephronophthisis 11, 613550 (3)
| Bile acid synthesis defect, congenital, 3, 613812 (3)
| Spastic paraplegia 5A, autosomal recessive, 270800 (3)
| ?DECR deficiency (2)
| * 604289 RAD54, S. CEREVISIAE, HOMOLOG OF, B
| Colon cancer, somatic, 114500 (3)
| Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
| Dihydropyrimidinuria, 222748 (3)
| Deafness, autosomal dominant 28, 608641 (3)
| ?Hypertrichosis universalis congenita, Ambras type (2)
| Lenz-Majewski hyperostotic dwarfism, 151050 (3)
| Ciliary dyskinesia, primary, 28, 615505 (3)
| Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)

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