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Term:
Griscelli syndrome (DOID:0060831)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
3MC syndrome +   
ABCD syndrome  
acanthosis nigricans +   
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
Acrootoocular Syndrome 
adult spinal muscular atrophy  
ADULT syndrome  
agammaglobulinemia +   
agenesis of the corpus callosum with peripheral neuropathy  
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anonychia with Flexural Pigmentation 
Antibody Deficiency due to Defect in CD19 
Antley-Bixler syndrome +   
ARC syndrome  
Argyria 
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
ataxia telangiectasia +   
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
atrichia with papular lesions  
Auditory Neuropathy, Nonsyndromic Recessive 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive Alport syndrome  
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal spinal muscular atrophy 1  
autosomal recessive distal spinal muscular atrophy 2  
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive early-onset Parkinson's disease 15  
autosomal recessive early-onset Parkinson's disease 23  
autosomal recessive early-onset Parkinson's disease 6  
autosomal recessive early-onset Parkinson's disease 7  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive juvenile Parkinson's disease 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive Parkinson's disease 14  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive type IV Ehlers-Danlos syndrome 
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
BADS syndrome 
Bardet-Biedl syndrome +   
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Basaran Yilmaz Syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Brown-Vialetto-Van Laere syndrome +   
Bullous Dystrophy, Hereditary Macular Type 
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
Cafe-au-Lait Spots +   
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
CAPOS Syndrome  
CARD11 Immunodeficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CD3epsilon deficiency 
CD3gamma deficiency 
Cd4+ Lymphocyte Deficiency  
CD40 deficiency  
CD8 Deficiency, Familial  
CEDNIK syndrome  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth Disease and Deafness  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chediak-Higashi syndrome +   
Chitty Hall Baraitser Syndrome 
Chudley-Mccullough syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
cold-induced sweating syndrome +   
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
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 Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
conjunctival pigmentation 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
Craniofacial Deafness Hand Syndrome  
craniolenticulosutural dysplasia  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
cystic fibrosis +   
Davenport Donlan Syndrome 
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Deltaretrovirus Infections +   
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
dilated cardiomyopathy with woolly hair and keratoderma +   
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome +   
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant  
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ehlers-Danlos syndrome progeroid type +   
Elejalde Disease 
Ellis-Van Creveld syndrome +   
Endotoxin Hyporesponsiveness  
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Ermine Phenotype 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial cold autoinflammatory syndrome +   
familial erythrocytosis 2  
Familial Hemophagocytic Lymphohistiocytoses +   
Fanconi-like syndrome  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fibular hypoplasia and complex brachydactyly  
Fitzsimmons Walson Mellor Syndrome 
FLOTCH Syndrome 
Flynn Aird Syndrome 
Fraser syndrome +   
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Galloway-Mowat syndrome +   
gangliosidosis +   
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Gonadal Dysgenesis, XX Type, with Deafness +   
Graying of Hair, Precocious 
Griscelli syndrome +   
An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)
Grouped Pigmentation of the Macula 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
Heterochromia Iridis  
HID Syndrome  
High-Frequency Hearing Loss  
Histiocytosis with Joint Contractures and Sensorineural Deafness  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
human immunodeficiency virus infectious disease +   
hydrolethalus syndrome +   
Hyperpigmentation +   
hypertelorism, microtia, facial clefting syndrome 
Hypoglobulinemia and Absent B Cells 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypopigmentation +   
hypopigmentation of eyelid 
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  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
Insulin-Like Growth Factor I Deficiency  
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  
JMP syndrome  
Johanson-Blizzard syndrome  
Kahrizi syndrome  
Kotzot-Richter Syndrome 
Laron syndrome +   
Laurence-Moon syndrome  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
MASP2 Deficiency  
Meier-Gorlin syndrome +   
microphthalmia with limb anomalies  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
MYH-9 related disease +   
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Nasu-Hakola disease  
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal jaundice +   
nephronophthisis +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
Netherton syndrome  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Nijmegen breakage syndrome +   
nonphotosensitive trichothiodystrophy +   
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocutaneous albinism +   
Optic Atrophy 1 and Deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
orofaciodigital syndrome V  
osteoporosis-pseudoglioma syndrome  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
Pfeiffer Kapferer Syndrome 
phagocyte bactericidal dysfunction +   
PHARC syndrome  
Pierson syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Pigmented Purpuric Eruption 
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2  
Premature Atherosclerosis, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
progeria +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
prothrombin deficiency +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
rapadilino syndrome  
Red Skin Pigment Anomaly of New Guinea 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Retinitis Pigmentosa Inversa with Deafness 
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Roberts syndrome  
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Russell-Silver Syndrome, X-Linked 
salt and pepper syndrome  
SC phocomelia syndrome  
Schaap Taylor Baraitser Syndrome 
Schimke immuno-osseous dysplasia  
Schwartz-Jampel syndrome 1  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sjogren-Larsson 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  
Sotos syndrome +   
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
spermatogenic failure 9  
Splenic Hypoplasia  
split hand-foot malformation 1 with sensorineural hearing loss  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
stromal corneal pigmentation 
Symmetric Acroleukopathy 
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
Tang Hsi Ryu Syndrome 
Telfer Sugar Jaeger Syndrome 
temtamy preaxial brachydactyly syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Treft Sanborn Carey Syndrome 
trimethylaminuria  
triple-A syndrome  
Tuftsin Deficiency 
Tunglang Savage Bellman Syndrome 
urofacial syndrome +   
urticaria pigmentosa  
Usher syndrome +   
UV-sensitive syndrome +   
Vici syndrome  
Vohwinkel Syndrome  
Waardenburg Syndrome Type 4 +   
Warburg micro syndrome +   
Werner syndrome +   
WHIM syndrome  
White Forelock with Malformations 
Whyte Murphy Syndrome 
Winkelman Bethge Pfeiffer Syndrome  
Wolcott-Rallison syndrome  
Wolfram syndrome 2  
Wolfram Syndrome, Mitochondrial Form 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-linked nonsyndromic deafness +   
xeroderma pigmentosum +   
yellow nail syndrome +  

Synonyms
Exact Synonyms: Chédiak-Higashi-like syndrome ;   Griscelli Disease ;   Griscelli-Pruniéras syndrome ;   partial albinism-immunodeficiency syndrome
Primary IDs: RDO:9001310
Xrefs: GARD:10913 ;   OMIM:PS214450 ;   ORDO:381
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12452176, https://www.ncbi.nlm.nih.gov/pubmed/707528

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