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Ontology Browser

Term:
dermatopathia pigmentosa reticularis (DOID:0111342)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
alopecia +     
Hyperpigmentation +     
nail disease +     
Skin Neoplasms +     
3p deletion syndrome 
46,XX sex reversal 2  
46,XX sex reversal 4  
46,XY sex reversal 10  
46,XY sex reversal 3  
46,XY sex reversal 6  
46,XY sex reversal 9  
Abdominal Chemodectomas with Cutaneous Angiolipomas 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acanthoma +   
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Adams-Oliver syndrome +   
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
age related macular degeneration +   
Al Gazali Hirschsprung Syndrome 
Alexander disease  
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder  
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
alopecia-mental retardation syndrome +   
Alves Castelo dos Santos Syndrome 
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Anal Sphincter Dysplasia 
Andersen-Tawil syndrome  
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
anterior segment dysgenesis 1  
anterior segment dysgenesis 4  
antithrombin III deficiency  
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
aplasia of lacrimal and salivary glands  
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
AREDYLD Syndrome 
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis and Ectodermal Dysplasia 
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
atrial standstill 1  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Aarskog syndrome 
autosomal dominant Alport syndrome  
autosomal dominant beta thalassemia  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant craniodiaphyseal dysplasia  
autosomal dominant craniometaphyseal dysplasia  
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant familial visceral neuropathy  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis +   
autosomal dominant keratosis follicularis spinulosa decalvans 
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant thrombophilia due to protein S deficiency  
autosomal dominant vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
Axenfeld-Rieger syndrome +   
Ayme-Gripp syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
BASAN syndrome  
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Becker Nevus Syndrome 
benign familial hematuria  
Beukes hip dysplasia  
bilateral optic nerve hypoplasia  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blue color blindness  
Blue Rubber Bleb Nevus Syndrome  
Bothnian type palmoplantar keratoderma  
brachydactyly type A1 +   
brachydactyly type A2  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type C  
brachydactyly type D  
brachydactyly-syndactyly syndrome  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL 2  
Calcifying Epithelial Odontogenic Tumor 
campomelic dysplasia +   
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
candidal paronychia 
cardiofaciocutaneous syndrome +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
cartilage-hair hypoplasia  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 24 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 37 
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 41  
cataract 42  
cataract 43  
cataract 47  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Central Centrifugal Cicatricial Alopecia  
Cerebellar Ataxia Ectodermal Dysplasia 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
cerebrocostomandibular syndrome  
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 1G  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2A  
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2DD  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5  
Charcot-Marie-Tooth disease, axonal type 2W  
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
chromosome 17q12 deletion syndrome  
chromosome 18p deletion syndrome  
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 5q12 deletion syndrome 
chronic mucocutaneous candidiasis +   
CINCA syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
cleidocranial dysplasia +   
Clouston syndrome  
COL4A1-related familial vascular leukoencephalopathy  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
Congenital Alopecia X-Linked 
congenital central hypoventilation syndrome  
congenital contractural arachnodactyly  
congenital diarrhea 6  
congenital dyserythropoietic anemia type IV  
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
congenital megabladder  
congenital muscular dystrophy due to LMNA mutation  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital nongoitrous hypothyroidism 8  
congenital nystagmus 2 
congenital nystagmus 3 
congenital nystagmus 4 
congenital nystagmus 7 
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
congenital vertical talus  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
cortisone reductase deficiency 2  
Costello syndrome  
Cowden syndrome +   
cranioectodermal dysplasia +   
craniofacial-deafness-hand syndrome  
Crouzon syndrome-acanthosis nigricans syndrome  
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
Currarino syndrome  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
D-2-hydroxyglutaric aciduria 2  
Davenport Donlan Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
delta beta-thalassemia +   
Denys-Drash syndrome  
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2. (DO)
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diamond Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 1  
Diamond-Blackfan anemia 10  
Diamond-Blackfan anemia 11  
Diamond-Blackfan anemia 12  
Diamond-Blackfan anemia 13  
Diamond-Blackfan anemia 16  
Diamond-Blackfan anemia 17  
Diamond-Blackfan anemia 18  
Diamond-Blackfan anemia 19  
Diamond-Blackfan anemia 2 
Diamond-Blackfan anemia 20  
Diamond-Blackfan anemia 3  
Diamond-Blackfan anemia 4  
Diamond-Blackfan anemia 5  
Diamond-Blackfan anemia 6  
Diamond-Blackfan anemia 7  
Diamond-Blackfan anemia 8  
Diamond-Blackfan anemia 9  
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diffuse cystic renal dysplasia  
DiGeorge syndrome +   
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
distal arthrogryposis type 10 
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 2A  
distal arthrogryposis type 2B1  
distal arthrogryposis type 2B2  
distal arthrogryposis type 2B3  
distal arthrogryposis type 3  
distal arthrogryposis type 5  
distal arthrogryposis type 7  
distal myopathy 1  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Double Nail for Fifth Toe 
Dowling-Degos disease +   
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
dystransthyretinemic hyperthyroxinemia  
ectodermal dysplasia 10A  
ectodermal dysplasia 11A  
ectodermal dysplasia 12  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 8 
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
EEC syndrome +   
Ehlers-Danlos syndrome arthrochalasia type 1  
Ehlers-Danlos syndrome arthrochalasia type 2  
Ehlers-Danlos syndrome classic type 1  
Ehlers-Danlos syndrome classic type 2  
Ellis-Van Creveld syndrome +   
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
Epidermolysis Bullosa Simplex with Nail Dystrophy  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
epithelial basement membrane dystrophy  
epithelial recurrent erosion dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
erythrokeratodermia variabilis et progressiva 6  
essential tremor 1  
essential tremor 2  
essential tremor 4  
essential tremor 5  
Euhidrotic Ectodermal Dysplasia 
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
familial adenomatous polyposis 1  
familial adult myoclonic epilepsy 1  
familial adult myoclonic epilepsy 2  
familial adult myoclonic epilepsy 3  
familial adult myoclonic epilepsy 4  
familial adult myoclonic epilepsy 6  
familial adult myoclonic epilepsy 7  
familial apolipoprotein A5 deficiency  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
Familial Cutaneous Collagenoma  
Familial Cutaneous Papillomatosis 
familial encephalopathy with neuroserpin inclusion bodies  
familial episodic pain syndrome 1  
familial episodic pain syndrome 2  
familial episodic pain syndrome 3  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial expansile osteolysis  
Familial Focal Alopecia 
familial hypocalciuric hypercalcemia +   
familial male-limited precocious puberty  
Familial Multiple Trichodiscomas 
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2  
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
Fanconi anemia complementation group R  
Fanconi renotubular syndrome 1  
Fanconi renotubular syndrome 3  
Fanconi renotubular syndrome 4  
Fanconi-like syndrome  
Feingold syndrome +   
fibrochondrogenesis 2  
fibrodysplasia ossificans progressiva  
Finnish type amyloidosis  
Floating-Harbor syndrome  
FLOTCH Syndrome 
focal dermal hypoplasia +   
focal nonepidermolytic palmoplantar keratoderma 1  
focal nonepidermolytic palmoplantar keratoderma 2  
focal or diffuse nonepidermolytic palmoplantar keratoderma  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Frasier syndrome  
Freire-Maia Odontotrichomelic Syndrome 
frontometaphyseal dysplasia 2  
Frontonasal Dysplasia 2  
Garret Tripp Syndrome 
geleophysic dysplasia 2  
geleophysic dysplasia 3  
giant axonal neuropathy 2  
gingival fibromatosis 5  
gnathodiaphyseal dysplasia  
Gomez Lopez Hernandez Syndrome 
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Guttmacher syndrome  
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Hamartoma, Precalcaneal Congenital Fibrolipomatous 
hand-foot-genital syndrome  
hawkinsinuria  
Hay Wells Syndrome Recessive Type 
Heinz body anemia  
heparin cofactor II deficiency  
hereditary breast ovarian cancer syndrome  
hereditary diffuse gastric cancer  
hereditary hemorrhagic telangiectasia +   
Hereditary Leiomyomatosis and Renal Cell Cancer  
hereditary lymphedema IA  
hereditary lymphedema IB 
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary lymphedema II 
hereditary mixed polyposis syndrome 2  
hereditary multiple exostoses +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holt-Oram syndrome  
Hooft Disease 
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hypergonadotropic Hypogonadism and Partial Alopecia 
Hyperkeratosis-Hyperpigmentation Syndrome 
hyperpigmentation of eyelid 
Hyperpigmentation of Fuldauer and Kuijpers 
hypertension and brachydactyly syndrome  
hypochondroplasia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypohidrotic ectodermal dysplasia +   
hypomyelinating leukodystrophy 6  
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
hypoplastic or aplastic tibia with polydactyly  
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5  
hypotrichosis 7  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
ichthyosis vulgaris +   
immunodeficiency 11B  
immunodeficiency 13  
immunodeficiency 14  
immunodeficiency 15A  
immunodeficiency 21  
immunodeficiency 27B  
immunodeficiency 31A  
immunodeficiency 31C  
immunodeficiency 32A  
immunodeficiency 36  
immunodeficiency 39  
immunodeficiency 49  
immunodeficiency 60  
immunodeficiency 70  
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
infantile or early childhood epileptic encephalopathy 1 +   
infantile or early childhood epileptic encephalopathy 2 +   
inflammatory bowel disease 21 
inflammatory bowel disease 3 
Ingrown Nails 
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
ischiocoxopodopatellar syndrome  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jagell Holmgren Hofer Syndrome 
Jansen's metaphyseal chondrodysplasia  
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
Jones Hersh Yusk Syndrome 
Judge Misch Wright Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Kniest dysplasia  
Kuster Majewski Hammerstein Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
large congenital melanocytic nevus  
Larsen syndrome  
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Lelis Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leukonychia Totalis +   
Li-Fraumeni syndrome +   
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
loose anagen hair syndrome +   
lymphedema-distichiasis syndrome +   
Lynch syndrome +   
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
macrocephaly-autism syndrome  
Malformed Nails +   
malignant hyperthermia +   
mandibulofacial dysostosis with alopecia  
mandibulofacial dysostosis, Guion-Almeida type  
Marshall syndrome +   
maturity-onset diabetes of the young +   
Meesmann corneal dystrophy 1  
Meesmann corneal dystrophy 2  
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
Melanosis +   
metachondromatosis  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
metatropic dysplasia  
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
Moloney Syndrome 
monilethrix +   
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple cutaneous and mucosal venous malformations  
multiple endocrine neoplasia type 1  
multiple endocrine neoplasia type 2A +   
multiple endocrine neoplasia type 2B +   
multiple endocrine neoplasia type 4  
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Naegeli-Franceschetti-Jadassohn syndrome  
nail-patella syndrome +   
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
NEMO Mutation with Immunodeficiency 
nephrotic syndrome type 4  
neurilemmomatosis  
Neurocutaneous Syndromes +   
neurodegeneration with brain iron accumulation 3  
neurofibromatosis +   
neurofibromatosis-Noonan syndrome  
neurogenic scapuloperoneal syndrome Kaeser type  
neurooculocardiogenitourinary syndrome  
nevoid basal cell carcinoma syndrome +   
NFIA-related disorder  
Nisch syndrome  
nonsyndromic aplasia cutis congenita  
nonsyndromic congenital nail disorder 1  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
Noonan syndrome with multiple lentigines +   
oblique facial clefting 1  
ocular albinism with sensorineural deafness  
oculoectodermal syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Onycholysis +   
Opitz GBBB syndrome type II  
optic atrophy 1  
optic atrophy 10  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
orofacial cleft 7 +   
orofaciodigital syndrome X 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
otospondylomegaepiphyseal dysplasia, autosomal dominant  
ovarian dysgenesis 8  
overhydrated hereditary stomatocytosis  
pachyonychia congenita +   
Pallister-Hall syndrome +   
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal  
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Palmoplantar Keratoderma, Spastic Paralysis 
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
PAPA syndrome  
Papillon-Lefevre disease +   
paraganglioma +   
paramyotonia congenita of Von Eulenburg  
parastremmatic dwarfism  
PARC Syndrome 
Parkinson's disease 1  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paronychia 
paroxysmal extreme pain disorder  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Patel Bixler Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
Perry syndrome  
Pfeiffer syndrome  
Phacomatosis Pigmentokeratotica 
photosensitive trichothiodystrophy 1  
piebaldism +   
pigmented paravenous chorioretinal atrophy  
Pinheiro Freire-Maia Miranda Syndrome 
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 9  
polycystic liver disease +   
popliteal pterygium syndrome +   
posterior amorphous corneal dystrophy 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
posterior polymorphous corneal dystrophy 4  
primary ciliary dyskinesia 43  
primary failure of tooth eruption  
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
Progressive Mucinous Histiocytosis 
progressive myoclonus epilepsy 7  
progressive osseous heteroplasia  
proprotein convertase 1/3 deficiency  
protein C deficiency +   
prothrombin thrombophilia 
proximal symphalangism +   
pseudoachondroplasia  
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
pure hair and nail ectodermal dysplasia +   
Rapp-Hodgkin syndrome  
Reactive Angioendotheliomatosis 
renal coloboma syndrome  
retinal arterial tortuosity  
retinal vasculopathy with cerebral leukodystrophy  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 9  
retinitis pigmentosa-deafness syndrome  
ring dermoid of cornea  
Robinson Miller Bensimon Syndrome 
Romano-Ward Syndrome  
Rombo Syndrome 
Rosselli-Gulienetti Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
Satoyoshi Syndrome 
Saul-Wilson syndrome  
scalp-ear-nipple syndrome  
scapuloperoneal spinal muscular atrophy  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
Schnyder corneal dystrophy  
Scholte Syndrome 
Schopf-Schulz-Passarge syndrome  
sclerosteosis 2  
Sclerotylosis  
sebaceous gland neoplasm +   
selective pituitary thyroid hormone resistance  
Sener Syndrome 
sepiapterin reductase deficiency  
Seres-Santamaria Arimany Muniz Syndrome 
severe congenital neutropenia 1  
SHORT syndrome  
skin benign neoplasm +   
skin cancer +   
Slti Salem Syndrome 
snowflake vitreoretinal degeneration  
solitary median maxillary central incisor  
Sorsby's fundus dystrophy  
spastic ataxia 1  
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 32  
spermatogenic failure 36  
spermatogenic failure 4  
spermatogenic failure 8  
spinal muscular atrophy with lower extremity predominance +   
split hand-foot malformation 1  
split hand-foot malformation 4  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Maroteaux type  
spondylometaphyseal dysplasia Kozlowski type  
Stickler syndrome 1  
Stickler syndrome 2  
stiff skin syndrome  
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
Subungual Exostoses 
Sweat Gland Neoplasms +   
Sweeney-Cox syndrome  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT  
tarsal-carpal coalition syndrome  
Taurodontia, Absent Teeth, Sparse Hair 
telogen effluvium 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thiel-Behnke corneal dystrophy  
thrombophilia due to activated protein C resistance  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
tinea favosa 
tinea unguium 
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy  
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Trichodental Syndrome 
trichodontoosseous syndrome  
Trichoepithelioma, Multiple Familial, 2  
Trichoepitheliomas, Multiple Desmoplastic 
Trichofolliculoma 
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
tuberous sclerosis +   
tubular aggregate myopathy 1  
tubular aggregate myopathy 2  
Tufted Angioma 
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
ulnar-mammary syndrome  
Universal Melanosis 
Urban Schosser Spohn Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
vascular type Ehlers-Danlos syndrome +   
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vohwinkel syndrome  
Waardenburg's syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weyers acrofacial dysostosis  
WHIM syndrome  
Williams-Beuren syndrome +   
Woodhouse-Sakati Syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worth syndrome  
yellow nail syndrome +  
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: DPR
Primary IDs: MESH:C535374
Alternate IDs: OMIM:125595
Xrefs: GARD:8550 ;   ORDO:86920
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1303619 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16960809 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.