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Term:
Prolidase Deficiency (DOID:9008654)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
2-Aminoadipic 2-Oxoadipic Aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
22q11 Deletion Syndrome +   
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p- syndrome 
5-Oxoprolinase Deficiency  
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence of Fingerprints  
Acrocephalopolydactylous Dysplasia 
acrodermatitis +   
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Actinic Prurigo  
Adams Nance Syndrome 
Adducted Thumbs Syndrome +   
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
Alagille syndrome  
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  
Anetoderma +   
Angelman syndrome  
Anisomastia 
Annular Erythema 
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
arterial tortuosity syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive congenital ichthyosis +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Barber-Say syndrome  
Bart-Pumphrey syndrome  
Barth syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Beare-Stevenson cutis gyrata syndrome  
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
Beta-Ureidopropionase Deficiency  
BH4-deficient hyperphenylalaninemia A  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
BIRK-LANDAU-PEREZ SYNDROME  
Blepharophimosis Syndrome Type 1  
Blepharophimosis Syndrome Type 2  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Blue Diaper Syndrome 
Book Syndrome 
Bowen Syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brunner syndrome  
bullous congenital ichthyosiform erythroderma  
Burnett Schwartz Berberian Syndrome +   
Buschke-Ollendorff Syndrome  
C1q Deficiency  
Camptodactyly Taurinuria 
Carboxypeptidase N Deficiency  
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
Carney complex +   
cerebral creatine deficiency syndrome +   
Cerebrofaciothoracic Dysplasia  
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD Syndrome  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 15q26-qter deletion syndrome 
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 5p13 duplication syndrome 
ciliopathy +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH Syndrome  
Cockayne syndrome +   
cocoon syndrome  
Coffin-Siris syndrome +   
Collagenosis, Familial Reactive Perforating 
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Cutaneous Bullous Amyloidosis 
Cutaneous Hemangiomatosis with Associated Features 
cutaneous porphyria  
cutis laxa +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Dermal Ridges, Nelson Syndrome 
Dermal Ridges, Patternless 
Dermoodontodysplasia 
Desmosterolosis  
Devriendt syndrome 
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Dincsoy Salih Patel Syndrome 
DK Phocomelia Syndrome 
Donohue syndrome +   
Dowling-Degos disease +   
Down syndrome +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
Dyskeratosis, Hereditary Benign Intraepithelial 
ectodermal dysplasia +   
Ectrodactyly Cardiopathy Dysmorphism 
Ehlers-Danlos syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
epidermolysis bullosa +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
EVEN-PLUS SYNDROME  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Dyskeratotic Comedones 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Familial Popliteal Pterygium Syndrome 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Genee-Wiedemann Syndrome  
Gerodermia Osteodysplastica  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
Glutamine Deficiency, Congenital  
Glutamyl Ribose-5-Phosphate Storage Disease 
Glutaric Aciduria +   
Glutathione Synthetase Deficiency  
Glutathionuria  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Hairy Palms and Soles 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Hartnup disease  
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hersh Podruch Weisskopk Syndrome 
Heterotaxy, Visceral, 2, Autosomal  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
histidine metabolism disease +   
histidinemia  
Histiocytic Dermatoarthritis 
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
homocystinuria +   
Hordnes Engebretsen Knudtson syndrome 
Hunter-Macdonald Syndrome 
Hyaluronan Metabolism, Defect in 
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
Hyperphosphatasia with Mental Retardation +   
Hyperprolinemias +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia 
Hypertryptophanemia, Familial  
Hypohidrosis with Abnormal Palmar Dermal Ridges 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
ichthyosis +   
ichthyosis vulgaris +   
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
inclusion-cell disease  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Insulin-Like Growth Factor I, Resistance To  
Iris Dysplasia Hypertelorism Deafness 
Isobutyryl-CoA Dehydrogenase Deficiency  
Isolated Noncompaction of the Ventricular Myocardium +   
Isolated Osteopoikilosis 
isovaleric acidemia  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 1  
Jung Wolff Back Stahl Syndrome 
Juvenile Spring Eruption of Ears 
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Ketoadipicaciduria 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Larsen-Like Syndrome, Lethal Type 
Lateral Meningocele Syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
lethal restrictive dermopathy  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
lipoid proteinosis  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lung Agenesis  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
MALEYLACETOACETATE ISOMERASE DEFICIENCY  
Manouvrier Syndrome 
maple syrup urine disease +   
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome 1  
Menke-Hennekam Syndrome 2   
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mercaptolactate-Cysteine Disulfiduria 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
Michelin Tire Baby Syndrome +   
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microdontia Hypodontia Short Stature 
Microphthalmia, Syndromic 7  
Microspherophakia with Hernia 
MIRAGE SYNDROME  
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial DNA depletion syndrome 5  
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muir-Torre syndrome  
Muller Barth Menger Syndrome 
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
multiple pterygium syndrome +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculotrichodysplasia 
Ogden syndrome  
organic acidemia +   
ornithine translocase deficiency  
orofaciodigital syndrome +   
orofaciodigital syndrome IX  
Oslam syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perisylvian Syndrome +   
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
phenylketonuria +   
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Pituitary Hormone Deficiency, Combined, 1  
Pituitary Hormone Deficiency, Combined, 4  
Plasminogen Deficiency, Type I  
Podder-Tolmie Syndrome 
POEMS syndrome 
poikiloderma with neutropenia  
Poikiloderma, Hereditary Sclerosing +   
Pointer Syndrome 
polycystic kidney disease +   
porokeratosis +   
Port-Wine Stain +   
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Primrose Syndrome  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
propionic acidemia +   
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
pseudoxanthoma elasticum +   
Pterygium Colli, Isolated 
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Richards-Rundle Syndrome 
Ridges-off-the-end Syndrome 
Ritscher-Schinzel syndrome +   
Rothmund-Thomson syndrome +   
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
Sarcosinemia  
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerema Neonatorum 
Scott Bryant Graham Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
serine deficiency +   
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stiff Skin Syndrome  
Stoelinga de Koomen Davis Syndrome 
Storm Syndrome 
succinic semialdehyde dehydrogenase deficiency  
Sulfite Oxidase Deficiency  
Systemic Hyalinosis  
systemic primary carnitine deficiency disease  
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tetra-Amelia with Pulmonary Hypoplasia 
Tetraamelia Multiple Malformations 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tiglic Acidemia 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
tyrosinemia +   
Tyrosinosis 
ulnar-mammary syndrome  
Urban Schosser Spohn Syndrome 
urea cycle disorder +   
Urioste Martinez-Frias Syndrome 
Urocanase Deficiency  
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Valinemia 
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Vascular Hyalinosis 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
visceral heterotaxy +   
Vohwinkel Syndrome  
Vohwinkel Syndrome, Variant Form  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
X-linked ichthyosis +   
xeroderma pigmentosum +   
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: Hyperimidodipeptiduria ;   Hyperimidodipeptidurias ;   Imidodipeptidase Deficiencies ;   Imidodipeptidase Deficiency ;   Prolidase Deficiencies
Primary IDs: MESH:D056732 ;   RDO:0007754
Alternate IDs: OMIM:170100
Definition Sources: MESH:D056732

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