Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hai... |
OMIM:614072 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Hermansky-Pudlak Syndrome 9 |
|
Ocular albinism, Hypopigmentation of the skin, Leukopenia, Abnormal platelet aggregation, Thrombo... |
OMIM:614171 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent... |
OMIM:615707 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... |
OMIM:214450 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Albinism, Impaire... |
OMIM:614074 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Albinism, Impaired platelet aggregat... |
OMIM:614076 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Fair hair, Ocular albinism, Bruising susceptibili... |
OMIM:619172 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ... |
OMIM:153640 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Hermansky-Pudlak Syndrome 6 |
|
Absent foveal reflex, Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Abn... |
OMIM:614075 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... |
OMIM:308220 |
Nephronophthisis |
|
Anemia, Abnormality of retinal pigmentation, Renal insufficiency |
ORPHA:655 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Thrombocytopenic Purpura, Autoimmune |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Nephropathy, Congenital thromboc... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, T... |
OMIM:314050 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
Thrombocytopenia 2 |
|
Bruising susceptibility, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... |
OMIM:615008 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Hermansky-Pudlak Syndrome 8 |
|
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Hypoplasia of the fovea... |
OMIM:614077 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... |
OMIM:300400 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... |
ORPHA:238459 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Recurrent bacterial inf... |
OMIM:607624 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... |
OMIM:300291 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections |
ORPHA:90023 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Partially duplicated kidney, Petechiae, Hematem... |
ORPHA:274 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deterioration, Shuffling... |
ORPHA:412066 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Iris hypopigmentation, Thrombocytopenia, Cataract |
ORPHA:67048 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus |
ORPHA:3319 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Carnosinuria |
OMIM:236130 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Hypopigmentation of hair,... |
OMIM:203300 |
Phenylketonuria |
|
Fair hair, Blue irides, Generalized hypopigmentation, Self-mutilation, Anxiety, Maternal hyperphe... |
OMIM:261600 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Fair hair, Ocular albinism, Splenomegaly, Generalized hypopigme... |
OMIM:608233 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Abnormal bleeding, Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Urocanase Deficiency |
|
Aggressive behavior, Fair hair, Blue irides |
OMIM:276880 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Pigmentary retinopathy... |
OMIM:275400 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Decreased ... |
OMIM:619281 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... |
ORPHA:79477 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Chorioretinal hypopigmentation, Hypopigmentation of hair, Iris tran... |
OMIM:619165 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... |
ORPHA:721 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Persistent Placoid Maculopathy |
|
Retinal pigment epithelial mottling, Choroidal neovascularization, Abnormal macular morphology, H... |
ORPHA:97341 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
Malaria |
|
Retinopathy, Anemia, Thrombocytopenia, Acute kidney injury |
ORPHA:673 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures, Irritability |
OMIM:146200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... |
ORPHA:3226 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria, Macrothrombocytopenia,... |
OMIM:603585 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy... |
ORPHA:859 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, ... |
OMIM:193510 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephrolithiasis, Abnormal calcium-phosphate regulating hormone level, Abnormality of retinal pigm... |
ORPHA:2196 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, ... |
ORPHA:381 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy, Neutro... |
OMIM:266130 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... |
OMIM:210250 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Alopecia, Recurrent upper re... |
OMIM:615559 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Nephrotic syndrome |
OMIM:613606 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctiv... |
ORPHA:36913 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... |
ORPHA:325 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... |
ORPHA:3318 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal hair quantity, Alopecia, Abnormal penis morphology, Cognitive impair... |
ORPHA:457059 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Prolonged bleeding time |
ORPHA:638 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair |
ORPHA:79476 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Hypospadias, Diabetes mellitus, Cryptorchidism, Red hair |
OMIM:614613 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis |
OMIM:616176 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Splenomegaly, Hypopigmentation of the skin, Retinopathy, Abnor... |
ORPHA:158029 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:177910 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natural killer cell... |
OMIM:308240 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal natural killer cell p... |
OMIM:613101 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Abnormal bleeding, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Generalized hirsutism, Lymphocytosis |
ORPHA:79087 |
Wolfram Syndrome 2 |
|
Optic neuropathy, Impaired collagen-induced platelet aggregation, Abnormal bleeding, Optic atroph... |
OMIM:604928 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Cognitive impairment, Hypopigm... |
ORPHA:100 |
Refractory Anemia |
|
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Erythroid hypoplasia, Macr... |
ORPHA:98826 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy,... |
ORPHA:3156 |
Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypogonadism |
OMIM:612462 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctiv... |
ORPHA:94089 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia, Irritability |
OMIM:239350 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... |
ORPHA:231401 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis |
ORPHA:3327 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Iris transil... |
OMIM:309300 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... |
ORPHA:1433 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Pseudohypoparathyroidism, Type Ia |
|
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypogonadism |
OMIM:103580 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... |
ORPHA:167 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Diabetic ketoac... |
OMIM:262190 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis |
OMIM:608890 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anem... |
ORPHA:54057 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra... |
OMIM:214500 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Hydroureter, Optic atrophy, Hydronephrosis, Neutropen... |
OMIM:598500 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Methionine Malabsorption Syndrome |
|
White hair, Positive ferric chloride test, Blue irides |
OMIM:250900 |
Eem Syndrome |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Retinop... |
ORPHA:1897 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Anxiety, Cataract, Astigmatism |
ORPHA:231183 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
Zika Virus Disease |
|
Absent foveal reflex, Subcutaneous hemorrhage, Retinal pigment epithelial mottling, Chorioretinal... |
ORPHA:448237 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Hypopigmentation of hair |
ORPHA:411515 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Iris transillumination de... |
OMIM:617319 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Hermansky-Pudlak Syndrome 4 |
|
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Hypoplasia of the fovea... |
OMIM:614073 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Thrombocytopenia 5 |
|
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... |
ORPHA:897 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia, Leukemia |
OMIM:194350 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia, Abnormality of retinal pigmentation |
ORPHA:858 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage... |
ORPHA:906 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedin... |
ORPHA:90308 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... |
OMIM:612925 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Achromatopsia |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuati... |
ORPHA:49382 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Vitiligo, Abnorma... |
ORPHA:3437 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Abnormal macular morphology, Bone-marrow foam cells, Anemia... |
OMIM:607616 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Anxiety, Cataract |
ORPHA:231169 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, A... |
ORPHA:94093 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Fair hair, Blue irides, Hypospadias, Hyperphosphatemia, Diabetes mellitus, Cryptorc... |
ORPHA:280651 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Mental Retardation, Buenos Aires Type |
|
Fair hair, Blue irides, Hypospadias, Curly eyelashes, Hyperconvex thumb nails, Long eyelashes |
OMIM:249630 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... |
OMIM:148820 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... |
OMIM:263300 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Hyperpi... |
OMIM:604250 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures |
OMIM:241410 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... |
OMIM:612922 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Bone marrow hypocel... |
ORPHA:88 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, Anemia, Aplasia/Hypoplasia o... |
ORPHA:290 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Generalized hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Ir... |
ORPHA:2720 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... |
OMIM:612926 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Hy... |
OMIM:606069 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Abnormal cornea morphology, Hypophosphatemia, Mental deterioration, Iris colob... |
ORPHA:2611 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovaries, Decreased HDL cholest... |
OMIM:604367 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Irregular hyperpigmentation, Alopecia, Anxiety, Abnormal fingernail... |
ORPHA:428 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Acute kidney injury, Proteinuria, Thrombocytop... |
ORPHA:275555 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Wiskott-Aldrich Syndrome |
|
Melena, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hypersensitivit... |
OMIM:301000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Depression, Memory impairment, Dementia |
OMIM:604121 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Cognitive impairment, Abnormality of retinal pigmentation, Synophrys, Heterochromia iridis |
ORPHA:1390 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Blue irides, External genital hypoplasia, Micropenis, Self-mutilation, Frontal balding, Early bal... |
ORPHA:3041 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis, Hyperpigmentation of the skin... |
ORPHA:75563 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Hypocalcemia, Hypoplasia of penis, Astigmatism, Hyperphosphatemia, Cryptorchidism |
ORPHA:2323 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Amed Syndrome, Digenic |
|
Leukopenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Thrombocytopenia,... |
OMIM:619151 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Optic atrophy, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Polycystic... |
ORPHA:2298 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... |
OMIM:300367 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Hydro... |
OMIM:222300 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Sengers Syndrome |
|
Thrombocytopenia, 3-Methylglutaconic aciduria |
OMIM:212350 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor, A... |
OMIM:611490 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Abnormality of the urinary system, Hem... |
ORPHA:91547 |
Transient Neonatal Diabetes Mellitus |
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Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Anterior Segment Dysgenesis 4 |
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Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
Diffuse Neonatal Hemangiomatosis |
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Anemia, Thrombocytopenia, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2123 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Cone-Rod Dystrophy, X-Linked, 1 |
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Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Waardenburg Syndrome Type 1 |
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Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Retinal degeneration, Aminoaciduria, Cone/cone-rod dystrophy, Optic atrophy... |
OMIM:249270 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Aggressive behavior, Blue irides, Self-mutilation |
OMIM:615516 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Leber Congenital Amaurosis 2 |
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Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Leber Congenital Amaurosis 9 |
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Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Retinitis Pigmentosa 19 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Retinitis Pigmentosa 28 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Short eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly eyelashes, Chronic... |
OMIM:258360 |
Retinitis Pigmentosa 88 |
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Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
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Pigmentary retinopathy |
OMIM:619090 |
Tufted Angioma |
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Hypertrichosis, Petechiae, Purpura, Anemia, Thrombocytopenia |
ORPHA:1063 |
Riboflavin Transporter Deficiency |
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Iris hypopigmentation, Aggressive behavior, Hypogonadism |
ORPHA:97229 |
Retinitis Pigmentosa 4 |
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Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... |
OMIM:603909 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Blue irides, Hyperphosphatemia, Hypogonadism, Melanocytic nevus, Cryptorchidism |
OMIM:101800 |
Pontocerebellar Hypoplasia, Type 15 |
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Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Isovaleric Acidemia |
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Hyperglycinuria, Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
Retinitis Pigmentosa 6 |
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Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Ermine Phenotype |
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Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... |
ORPHA:999 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Hyperphosphatemia |
OMIM:614207 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Leber Congenital Amaurosis 1 |
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Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... |
OMIM:204000 |
Folate Malabsorption, Hereditary |
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Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Waardenburg Syndrome, Type 2E |
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Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Hypoplasia o... |
OMIM:611584 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Nail dysplasia, Alopecia, Retinopathy, Leukopenia, Aplastic anemia, Fine hair, Pancytopenia, Bone... |
OMIM:613990 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Alopecia, Leukopenia, Nephropathy, Hemolytic anemia, Purpura, Gastrointestinal hemo... |
ORPHA:809 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Anxiety, Hyperglycemia |
OMIM:618970 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis |
OMIM:274240 |
Mgat2-Cdg |
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Hirsutism, Decreased circulating IgG level, Abnormal bleeding, Hypoplastic nipples, Impaired lymp... |
ORPHA:79329 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Noonan Syndrome 13 |
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Generalized hirsutism, Hypertrichosis, Head-banging, Blue irides, Broad eyebrow, Anxiety, Multipl... |
OMIM:619087 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Congenital Disorder Of Glycosylation, Type Iik |
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Thrombocytopenia, Hemolytic-uremic syndrome |
OMIM:614727 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia, Hypoplasia of the iris |
OMIM:612783 |
Edinburgh Malformation Syndrome |
|
Generalized hirsutism, Hirsutism, Synophrys, Brushfield spots, Low posterior hairline |
ORPHA:1895 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Pigmentary retinopathy, Hyperglycemia |
OMIM:520000 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Generalized hyperpig... |
ORPHA:3322 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Irritability, Hypergonadotropic hypogonadism, Anxiety, Hypocalcemic tetany, Hyperph... |
ORPHA:79444 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormal vagina morphology, Hypopigmentation of hair, Abnormality of... |
ORPHA:3440 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Internal hemorrhage, Anemia, Thrombocytopenia |
ORPHA:69077 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation |
ORPHA:1117 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Reticulated skin pig... |
OMIM:613987 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Optic atrophy, Renal insufficiency, Anemia, Thrombocytopenia |
ORPHA:27 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypo... |
ORPHA:791 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Nail dysplasia, Leukopenia, Aplastic anemia, Urethral stricture, Pancytopenia, Nail dystrophy, Ne... |
OMIM:613989 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Classic Phenylketonuria |
|
Self-injurious behavior, Mental deterioration, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:79254 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Hyperpigm... |
ORPHA:3214 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Anemia, Hypertrichosis, Pigmentary retinopathy |
ORPHA:255241 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia, Anemia |
OMIM:127000 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia, Aminoaciduria |
OMIM:614946 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... |
ORPHA:98754 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Cryptorchidism, White eyebrow, White eyelashes, Heterochromia iridis, White forelock... |
OMIM:613266 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Alopecia, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopen... |
ORPHA:169154 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation, Splenomegaly |
ORPHA:834 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... |
ORPHA:98793 |
X-Linked Recessive Ocular Albinism |
|
Ocular albinism, Abnormal pupil morphology, Astigmatism, Giant melanosomes in melanocytes, Iris h... |
ORPHA:54 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Fingernail dysplasia |
ORPHA:1259 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... |
ORPHA:177904 |
Waardenburg Syndrome, Type 1 |
|
Aplasia of the vagina, Hypoplastic iris stroma, Thick eyebrow, Blue irides, Partial albinism, Whi... |
OMIM:193500 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Precocious puberty, Self-injurious behavior, External genital hypoplasia, Hypopigmentation of the... |
ORPHA:177901 |
Acute Promyelocytic Leukemia |
|
Petechiae, Leukocytosis, Bruising susceptibility, Abnormal bleeding, Diffuse alveolar hemorrhage,... |
ORPHA:520 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy |
ORPHA:49827 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Premature graying of hair, Reticular hyperpigmentation, Lymphopenia, Sparse hair, Alop... |
OMIM:127550 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Hemolytic anemia, Lupus nephritis, Thrombocytopenia |
OMIM:152700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level, Alopecia |
OMIM:616576 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia |
ORPHA:108 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Membranoprol... |
OMIM:619644 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Band keratopathy, Irritability, Hypergonadotropic hypogonadism, Anxiety, Hypocalcem... |
ORPHA:79443 |
Mucopolysaccharidosis-Plus Syndrome |
|
Coarse hair, Enlarged kidney, Optic atrophy, Long eyelashes, Proteinuria, Bone marrow hypocellula... |
OMIM:617303 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus |
OMIM:614162 |
Noonan Syndrome 4 |
|
Blue irides, Sparse eyebrow, Bruising susceptibility, Abnormal bleeding, Ureteral duplication, Hy... |
OMIM:610733 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Opacification... |
OMIM:214110 |
Transaldolase Deficiency |
|