Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Ichthyosis, Split Hairs, and Amino Aciduria (DOID:9007949)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Acquired Ichthyosis 
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Asparagine Synthetase Deficiency  
autosomal recessive congenital ichthyosis +   
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
bullous congenital ichthyosiform erythroderma  
Camptodactyly Taurinuria 
Camptodactyly-Ichthyosis Syndrome 
carboxypeptidase N deficiency  
Cataract and Congenital Ichthyosis 
cerebral creatine deficiency syndrome +   
CHIME syndrome  
Congenital Ichthyosis with Trichothiodystrophy +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Deal Barratt Dillon Syndrome 
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Dykes Markes Harper Syndrome 
epidermolytic hyperkeratosis +   
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency +   
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Grover's Disease 
Hartnup disease  
HID Syndrome  
histidine metabolism disease +   
histidinemia  
homocystinuria +   
homocystinuria-megaloblastic anemia cblG type  
hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Ichthyosis Prematurity Syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IFAP Syndrome +   
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Jagell Holmgren Hofer Syndrome 
Keratitis-Ichthyosis-Deafness Syndrome +   
keratosis pilaris atrophicans +   
Ketoadipicaciduria 
Koone Rizzo Elias Syndrome 
Lamellar Ichthyosis, Autosomal Dominant Form  
leucine-sensitive hypoglycemia of infancy  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
Neu-Laxova syndrome 1  
Nisch syndrome  
nuclear type mitochondrial complex I deficiency 20  
organic acidemia +   
ornithine translocase deficiency  
Osteosclerosis with Ichthyosis and Fractures 
pentosuria  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
Richards-Rundle Syndrome 
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
sarcosinemia  
serine deficiency +   
Sjogren-Larsson syndrome +   
Stormorken syndrome  
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
Trichodysplasia-Xeroderma 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
X-linked ichthyosis +   
xeroderma of eyelid 

Synonyms
Primary IDs: MESH:C565471
Alternate IDs: OMIM:242550

paths to the root