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Ontology Browser

Term:
renal hypomagnesemia 5 with ocular involvement (DOID:0060881)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Alacrima +   
Albinism +   
aniridia +   
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia 3  
Ataxia-Oculomotor Apraxia 4  
Bartter disease +   
basal laminar drusen  
bestrophinopathy  
Bothnia retinal dystrophy  
bradyopsia  
calcinosis +   
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
cone-rod dystrophy +   
Congenital Alacrima +   
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital fibrosis of the extraocular muscles 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Dent disease +   
Donnai-Barrow syndrome  
Duane retraction syndrome +   
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
Familial Azotemia 
familial benign fleck retina  
Familial Hypophosphatemia +   
Familial Renal Hypouricemia due to Tubular Hypersecretion  
Fanconi syndrome +   
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Gitelman syndrome  
Glaucoma 1, Open Angle, P  
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
hypercalcemia +   
Hypercalciuria +   
Hypocalcemia +   
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial  
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypophosphatemic nephrolithiasis/osteoporosis 2  
Hypouricemia, Hypercalcinuria, and Decreased Bone Density 
iminoglycinuria  
intestinal hypomagnesemia 1  
Iris Pigment Epithelium Anomalies 
Joubert syndrome 8  
Leber congenital amaurosis +   
Liddle syndrome +   
Manz Syndrome 
megalocornea +   
Microcephaly and Chorioretinopathy +   
nephrogenic syndrome of inappropriate antidiuresis  
oculocerebrorenal syndrome +   
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Pathologic Decalcification +  
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary congenital glaucoma +   
pseudohypoaldosteronism +   
pseudohypoparathyroidism +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
Renal Aminoacidurias +   
renal glycosuria +   
renal hypomagnesemia 2  
renal hypomagnesemia 3  
renal hypomagnesemia 4  
renal hypomagnesemia 5 with ocular involvement  
A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)
renal hypomagnesemia 6  
Renal Hypouricemia  
Renal Hypouricemia, 2  
renal tubular acidosis +   
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
rickets +   
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-Linked Macular Dystrophy +   
X-linked nephrolithiasis type I  

Synonyms
Exact Synonyms: FHHNC with severe ocular involvement ;   HOMG5 ;   Idiopathic hypercalciuria with bilateral macular colobomata ;   Meier-Blumberg-Imahorn syndrome ;   bilateral macular coloboma with hypercalciuria ;   familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement ;   hypercalciuria-bilateral macular coloboma syndrome ;   renal hypomagnesemia with ocular involvement
Related Synonyms: renal hypomagnesemia, recessive
Primary IDs: MESH:C565423
Alternate IDs: MESH:C536148 ;   OMIM:248190
Xrefs: ORDO:2196
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17033971 "DO" "DO"

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