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Term:
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE (DOID:9007380)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p- syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence of Fingerprints  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Actinic Prurigo  
Adducted Thumbs Syndrome +   
agammaglobulinemia +   
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  
Albinism +   
alopecia +   
Alopecia Congenita Keratosis Palmoplantaris +   
Angelman syndrome  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anisomastia 
Annular Erythema 
Antibody Deficiency due to Defect in CD19 
arterial tortuosity syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
ataxia telangiectasia +   
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital ichthyosis 11  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
BIRK-LANDAU-PEREZ SYNDROME  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Bowen Syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
bullous congenital ichthyosiform erythroderma  
Burnett Schwartz Berberian Syndrome +   
Buschke-Ollendorff Syndrome  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
CARD11 Immunodeficiency  
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
Carney complex +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CEDNIK 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 +   
Coffin-Siris syndrome +   
Cole Disease  
Collagenosis, Familial Reactive Perforating 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
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 hypotrichosis with juvenile macular dystrophy  
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Corneodermatoosseous 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 porphyria  
cutis laxa +   
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Deltaretrovirus Infections +   
Desmosterolosis  
Devriendt syndrome 
Diffuse Palmoplantar Keratoderma +   
dilated cardiomyopathy with woolly hair and keratoderma +   
Dincsoy Salih Patel Syndrome 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donohue syndrome +   
Dowling-Degos disease +   
Down syndrome +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant  
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectrodactyly Cardiopathy Dysmorphism 
Ehlers-Danlos syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Endotoxin Hyporesponsiveness  
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 
epidermolysis bullosa +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erythroderma Desquamativa of Leiner 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
EVEN-PLUS SYNDROME  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
familial cold autoinflammatory syndrome +   
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Fanconi-like syndrome  
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Fine-Lubinsky Syndrome 
Fitzsimmons-McLachlan-Gilbert 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 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Genee-Wiedemann Syndrome  
Gerodermia Osteodysplastica  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glutamyl Ribose-5-Phosphate Storage Disease 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Grant Syndrome 
Griscelli syndrome +   
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
Hepatic Porphyrias +   
Hepatic Venoocclusive Disease with Immunodeficiency  
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hersh Podruch Weisskopk Syndrome 
Heterotaxy, Visceral, 2, Autosomal  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Histiocytic Dermatoarthritis 
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
human immunodeficiency virus infectious disease +   
Hunter-Macdonald Syndrome 
Hyaluronan Metabolism, Defect in 
Hyperkeratosis-Hyperpigmentation Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hypoglobulinemia and Absent B Cells 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
Hypotrichosis 14  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis and recurrent skin vesicles  
hypotrichosis of eyelid 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
ichthyosis vulgaris +   
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
IMMUNODEFICIENCY 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
IMMUNODEFICIENCY 58  
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
Immunodeficiency without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
inclusion-cell disease  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Isolated Osteopoikilosis 
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 1  
Judge Misch Wright Syndrome 
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 
Keratoderma Palmoplantaris Transgrediens 
Keratolytic Winter Erythema  
Keratosis Focal Palmoplantar Gingival 
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Keratosis Palmaris et Plantaris with Clinodactyly 
Keratosis Palmoplantaris Striata 1  
Keratosis Palmoplantaris Striata 2  
Keratosis Palmoplantaris Striata 3  
Keratosis Palmoplantaris with Esophageal Cancer  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kotzot-Richter 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 Erythroderma 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
leukocyte adhesion deficiency +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
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 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lung Agenesis  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
mal de Meleda  
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Manouvrier Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
MASP2 Deficiency  
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 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
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 
Microspherophakia with Hernia 
MIRAGE SYNDROME  
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 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 +   
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Naegeli Syndrome  
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
Naxos Disease  
NEMO Mutation with Immunodeficiency 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neurofaciodigitorenal Syndrome 
Neutrophil Immunodeficiency Syndrome  
nevoid basal cell carcinoma syndrome +   
Nezelof syndrome 
Nicolaides Baraitser Syndrome  
nonepidermolytic palmoplantar keratoderma +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculotrichodysplasia 
Ogden syndrome  
orofaciodigital syndrome +   
orofaciodigital syndrome IX  
Oslam syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmoplantar Hyperkeratosis and True Hermaphroditism  
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal  
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR +   
Palmoplantar Keratoderma with Deafness  
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques +   
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked  
Palmoplantar Keratoderma, Nagashima Type  
Palmoplantar Keratoderma, Norrbotten Recessive Type 
Palmoplantar Keratoderma, Spastic Paralysis 
palmoplantar keratosis +   
Papillon-Lefevre disease +   
Parana Hard Skin Syndrome 
Patel Bixler 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 
phagocyte bactericidal dysfunction +   
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, Hereditary Sclerosing +   
Pointer Syndrome 
polycystic kidney disease +   
porokeratosis +   
Porokeratosis 2, Palmar, Plantar, and Disseminated Type  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Powell Venencie Gordon 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  
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
pseudoxanthoma elasticum +   
punctate palmoplantar keratoderma +   
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  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rombo 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 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke immuno-osseous dysplasia  
Schinzel-Giedion Syndrome  
Schopf-Schulz-Passarge Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scott Bryant Graham Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
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  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Splenic Hypoplasia  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stiff Skin Syndrome  
Stoelinga de Koomen Davis Syndrome 
Storm Syndrome 
Systemic Hyalinosis  
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
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 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichoodontoonychial Dysplasia 
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome 
Tuftsin Deficiency 
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
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 
WHIM syndrome  
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Autosomal Recessive 3  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
X-linked ichthyosis +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
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: EPKHE ;   SAM SYNDROME ;   SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
Primary IDs: OMIM:615508
Alternate IDs: RDO:9000972

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