Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... |
ORPHA:2779 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Clubbing of fingers,... |
OMIM:618982 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Palmoplantar Keratoderma, Epidermolytic |
|
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis |
OMIM:144200 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Clubbing of fingers, Increased circulating... |
OMIM:615767 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... |
ORPHA:93323 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing, Increased circulating IgE ... |
ORPHA:1858 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Neutropenia, Chronic Familial |
|
Clubbing of fingers, Increased circulating antibody level, Neutropenia, Clubbing |
OMIM:162700 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent... |
OMIM:619632 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Brittle hair, Eosinophilia, Nail dystrophy, Increased circulating IgE... |
OMIM:270300 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Endove Syndrome, Limb-Only Type |
|
Volar fingernail, Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd fi... |
OMIM:619217 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Fine hair, Slow-growing scalp hair, Increased circulating IgE level, Alopecia ... |
ORPHA:90368 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora... |
ORPHA:277 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Urban-Rogers-Meyer Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Brachydactyly, Abnormal ep... |
ORPHA:3409 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
White Forelock With Malformations |
|
Poliosis, White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Netherton Syndrome |
|
Sparse scalp hair, Irregular hyperpigmentation, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, ... |
ORPHA:634 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Netherton Syndrome |
|
Sparse scalp hair, Decreased circulating IgG level, Brittle hair, Sparse eyebrow, Brittle scalp h... |
OMIM:256500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Hip dislocation, Increased circulating IgE level, Eosinophilia, Clubbing |
OMIM:618523 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Deep-set nails... |
OMIM:201170 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Small nail, Talipes equinovalgus, Aplastic/hypoplastic toenail, Brachydactyly, ... |
OMIM:228900 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Talipes equinovarus, Lymphopeni... |
OMIM:619752 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Alopecia universalis, Decreased circulatin... |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Neutropeni... |
OMIM:304790 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... |
OMIM:612922 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum creatinine... |
OMIM:617744 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap... |
OMIM:102700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... |
OMIM:612925 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Micrognathia, Decreased circulating total IgM, Broad phalanges of t... |
ORPHA:508533 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased serum complement factor H, Hyperlipidemia, Increased blood urea nitrogen, Decreased ser... |
OMIM:235400 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration, Cir... |
OMIM:607665 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Increased circulating IgE level |
OMIM:147060 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Paronychia, Increased circulating IgE level, Onychogryposis |
OMIM:614328 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... |
ORPHA:177910 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Supernumerary nipple, Metaphyseal widening, Brachydactyly, Rhizomelia, Elevated... |
OMIM:614376 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, In... |
OMIM:209950 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Decreased serum complement C3, Complement deficiency, Decreased serum complement C4, Elevated cir... |
ORPHA:567544 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalange... |
OMIM:601559 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Hypopigmentation of the skin, Sho... |
ORPHA:356961 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, Lymphopenia, Neutro... |
ORPHA:443811 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Elevated circulating C-reactive protein concentrati... |
OMIM:308240 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, Elevated circulating creatinine con... |
ORPHA:329918 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... |
OMIM:615559 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Hypereosi... |
ORPHA:2902 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Albini... |
OMIM:614072 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Increased circulating IgG level, Hemolytic anemia, Increased circulati... |
OMIM:615816 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Paronychia, Eosinophilia, Dystrophic fingernails, Increased circulating IgE level, Abnormal hair ... |
ORPHA:2314 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Abnorma... |
ORPHA:330015 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, ... |
ORPHA:381 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Alopecia, Spl... |
ORPHA:37042 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
Aspergillosis |
|
Abnormal long bone morphology, Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Red hair, ... |
OMIM:614613 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Abnormal ... |
OMIM:618048 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial a... |
ORPHA:79477 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemi... |
OMIM:608104 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Decreased serum complement C3, Decreased serum complement C4, Elevated circulating ... |
ORPHA:90060 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Methionine Malabsorption Syndrome |
|
White hair, Aminoaciduria, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... |
OMIM:274150 |
Muenke Syndrome |
|
Carpal synostosis, Hypermelanotic macule, Cone-shaped epiphysis, Hypopigmentation of hair, Short ... |
ORPHA:53271 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... |
OMIM:300291 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... |
ORPHA:29073 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, H... |
ORPHA:507 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency ... |
OMIM:618885 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Blue irides, Camptodactyly of finger, Brachydactyly, Partial albinism, Clinoda... |
OMIM:148820 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Abnormal metaphysis morphology, Long fibula, Fine hair, Agammaglobulinemia, Anemia, ... |
ORPHA:935 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Abnormality of hair pigmentation, Micrognathia, Slender long bone, Increased ... |
OMIM:618156 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Abnormal hair morphology, Talipes equinovarus, Hand oligodactyly, Camptodactyly of... |
OMIM:206920 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Cartilage-Hair Hypoplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Fair hair, Sparse hair, Sparse eyebrow, Sp... |
OMIM:250250 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Lymphopenia, Hypopigmentation of hair, Decreased circulating antibody ... |
ORPHA:100 |
Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... |
ORPHA:1310 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgG1 level, Decrease... |
ORPHA:449395 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Simpson-Golabi-Behmel Syndrome |
|
Nail dysplasia, Short toe, Clinodactyly of the 5th finger, Talipes equinovarus, Short 2nd finger,... |
ORPHA:373 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Tapered toe, Elevated circulating long chain fatty acid concentration, Hype... |
OMIM:608836 |
Chilblain Lupus |
|
Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... |
ORPHA:449432 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Omodysplasia 1 |
|
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... |
OMIM:258315 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Neutropenia, Flared iliac wing, Splenomegaly, Metaphyseal widen... |
OMIM:617303 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Ermine Phenotype |
|
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of... |
ORPHA:999 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Sparse hair, Elevated circulating C-reactive protein concentrati... |
OMIM:615934 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Schnitzler Syndrome |
|
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Cryoglobulinemia, Familial Mixed |
|
Cryoglobulinemia, Elevated circulating creatinine concentration |
OMIM:123550 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Abnormal leukocyte morphology, Anemia, Generalized hyperpigmentation, Nail dys... |
ORPHA:3322 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... |
ORPHA:542323 |
Interstitial Lung Disease 2 |
|
Clubbing of fingers, Increased circulating antibody level |
OMIM:178500 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Micrognathia, Mildly elevated creatine kinase |
ORPHA:171442 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra... |
OMIM:214500 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
Prolidase Deficiency |
|
Increased circulating antibody level, Facial hirsutism, Splenomegaly, Micrognathia, Anemia, Throm... |
OMIM:170100 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:617388 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:247691 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Paraproteinemia |
ORPHA:439232 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Ocular albinism, Fair hair, Reduced platelet dens... |
OMIM:619172 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... |
ORPHA:2442 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic toenails, Clinodactyly of the 5th finger, Narrow greater sciatic notch, S... |
OMIM:228520 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Abnormality of the calf musculature, Leukocytosis, Limitation of movement at ankles, Absent patel... |
ORPHA:206594 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Occipital Horn Syndrome |
|
Coxa vara, Thick hair, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Coarse ha... |
ORPHA:198 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
Acrofacial Dysostosis, Rodríguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Vici Syndrome |
|
Decreased circulating IgG level, Ocular albinism, Hypopigmentation of the skin, Micrognathia, Hyp... |
OMIM:242840 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Nail dysplasia, Neutropenia, Leukopenia, Aplastic anemia, Palmoplantar hyperkeratosis, Thrombocyt... |
OMIM:613989 |
Brachymesomelia-Renal Syndrome |
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Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
Dopamine Beta-Hydroxylase Deficiency |
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Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Increased circulating antibody level, Lymphopenia, Splenomegaly, Finger swelling, Hypertriglyceri... |
OMIM:617591 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... |
ORPHA:85450 |
Orofaciodigital Syndrome X |
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Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Trichothiodystrophy 3, Photosensitive |
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Lymphopenia, Increased circulating IgA level, Brittle hair, Tiger tail banding, Trichorrhexis nod... |
OMIM:616395 |
Tularemia |
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Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
Boutonneuse Fever |
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Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia, A... |
ORPHA:83313 |
46,Xy Sex Reversal 4 |
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Micrognathia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... |
OMIM:617099 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Congenital Analbuminemia |
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Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... |
ORPHA:86816 |
Hermansky-Pudlak Syndrome 1 |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Acro-Renal-Mandibular Syndrome |
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Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
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Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Phocomelia, Schinzel Type |
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Aplasia of the ulna, Ectrodactyly, Nail dysplasia, Radial bowing, Hand oligodactyly, Hypoplasia o... |
ORPHA:2879 |
Poems Syndrome |
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Increased circulating antibody level, Hypertrichosis, Leukonychia, Metaphyseal sclerosis, Polycyt... |
ORPHA:2905 |
Classic Phenylketonuria |
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Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia |
ORPHA:79254 |
Viss Syndrome |
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Sparse scalp hair, Decreased circulating IgA level, Hirsutism, Talipes equinovarus, Microretrogna... |
OMIM:619472 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypertrichosis, Increased circulating interleukin 8 concentration, Elevated circulating C-reactiv... |
OMIM:256040 |
Zika Virus Disease |
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Retinal pigment epithelial mottling, Increased circulating IgM level, Thrombocytopenia, Ankle swe... |
ORPHA:448237 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Elevated circula... |
ORPHA:449563 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly |
OMIM:618541 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Decreased circulating IgA level, Micrognathia, T lymphocytopenia, Increased circulating IgM level... |
OMIM:242860 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Abnormal long bone morphology, Hypoca... |
ORPHA:411634 |
Schneckenbecken Dysplasia |
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Hypoplastic toenails, Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypop... |
ORPHA:3144 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... |
OMIM:211350 |
Syndromic Diarrhea |
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Woolly hair, Lymphopenia, Brittle hair, Generalized hypopigmentation, Splenomegaly, Hypoplasia of... |
ORPHA:84064 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Hemophagocytosis, Complement deficiency, Increased ... |
ORPHA:470 |
Trichinellosis |
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Increased circulating IgE level |
ORPHA:863 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Normocytic ... |
ORPHA:49041 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Hyperpigmentation of the skin |
ORPHA:48377 |
Marburg Hemorrhagic Fever |
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Increased circulating antibody level, Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Eleva... |
ORPHA:99826 |
Acrorenal-Mandibular Syndrome |
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Absent nipple, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary ... |
OMIM:200980 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level |
ORPHA:90003 |
Acrodysostosis With Multiple Hormone Resistance |
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Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Blue irides, Fair hair, Absent/hypoplastic... |
ORPHA:280651 |
Gaisböck Syndrome |
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Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Acromelic Frontonasal Dysplasia |
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Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Abnormal toenail morphology, Patellar hypop... |
ORPHA:1827 |
Autoimmune Hepatitis |
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Increased circulating antibody level, Splenomegaly, Increased circulating IgG level, Increased to... |
ORPHA:2137 |
Gaucher Disease Type 1 |
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Increased circulating antibody level, Splenomegaly, Leukopenia, Pedal edema, Pancytopenia, Anemia... |
ORPHA:77259 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Clinodactyly of the 5th finger, Micrognathia, Coarse hair, Down-sloping shoulders, Brachydactyly,... |
ORPHA:1974 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Campomelic Dysplasia |
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Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... |
ORPHA:140 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hydrolethalus Syndrome 1 |
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Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Brittle Cornea Syndrome 1 |
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Palmoplantar cutis laxa, Congenital hip dislocation, Red hair |
OMIM:229200 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Increased circulating antibody level, Abnormality of retinal pigmentation, Elevated circulating C... |
ORPHA:91500 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Mevalonic Aciduria |
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Elevated circulating C-reactive protein concentration, Fluctuating splenomegaly, Leukocytosis, In... |
OMIM:610377 |
Simple Cryoglobulinemia |
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Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... |
ORPHA:91139 |
Hemorrhagic Fever-Renal Syndrome |
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Increased circulating interleukin 6 concentration, Leukocytosis, Elevated circulating creatinine ... |
ORPHA:340 |
Prader-Willi Syndrome |
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Generalized hypopigmentation, Small hand, Hypopigmentation of the skin, Frontal upsweep of hair, ... |
OMIM:176270 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... |
OMIM:276820 |
Oligomeganephronia |
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Micrognathia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Cranioectodermal Dysplasia 1 |
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Short distal phalanx of finger, Short toe, Hypocalcemia, Thin nail, Sparse hair, Short ribs, Shor... |
OMIM:218330 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh... |
ORPHA:238468 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Overlapping toe, Elevated circulating creatinine concentration |
OMIM:617478 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Increased circulating IgA level, Abnormal circulating fatty-acid concentration, Decrea... |
ORPHA:2298 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Arachnodactyly, Camptodactyly, Pes planus, Abnormal epiphysis m... |
ORPHA:90354 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Neutrophilia, Leukocytosis... |
ORPHA:99829 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Hypertrichosis, Abnormality of retinal pigmentation, Decreased circulating IgG level, Anemia, Hep... |
ORPHA:505248 |
Campomelic Dysplasia |
|
Short nail, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Ant... |
OMIM:114290 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411511 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Ocular albinism, Arachnodactyly, Hypopigmentation of hair, Abnormal thumb morphology, Iris hypopi... |
ORPHA:2719 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Degcags Syndrome |
|
Hypertrichosis, Genu valgum, Long eyelashes, Pancytopenia, Hemihypotrophy of lower limb, Talipes ... |
OMIM:619488 |
Al Amyloidosis |
|
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbumine... |
ORPHA:85443 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Abnormal circulating lipid concentration, Conjugated hyperbiliru... |
ORPHA:186 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Limitation of move... |
ORPHA:98794 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Clinodactyly of the 5th finger, Stellate iris, Bilateral talipes equinovarus, Sm... |
ORPHA:177907 |
Duane Retraction Syndrome |
|
Talipes equinovarus, Irregular hyperpigmentation, Hypoplasia of the radius, Micrognathia, Absent ... |
ORPHA:233 |
Iga Pemphigus |
|
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Koolen-De Vries Syndrome |
|
Arachnodactyly, Hip dislocation, Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Sim1-Related Prader-Willi-Like Syndrome |
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Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Short foot, Hip dysplasia |
ORPHA:398079 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Aminoaciduria, Splenomeg... |
OMIM:219800 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Eosinophilia, Splenic cyst, Hyperbilirubinemia |
ORPHA:400 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Pedal ... |
ORPHA:98754 |
Japanese Encephalitis |
|
Increased circulating antibody level, Genu recurvatum, Talipes equinovarus, Neutrophilia, Increas... |
ORPHA:79139 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Pedal ... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Pedal ... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Pedal ... |
ORPHA:177901 |
Alveolar Echinococcosis |
|
Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia, Pedal edema, Abno... |
ORPHA:284 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Short foot, Hip dysplasia |
ORPHA:398069 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi... |
ORPHA:289390 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated alpha-fetoprotein, Increased circulating antibody level, Pes cavus, Elevated circulating... |
OMIM:606002 |
Prader-Willi-Like Syndrome |
|
Small hand, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Pedal ... |
ORPHA:398073 |
Orofaciodigital Syndrome Type 4 |
|
Hypoplastic toenails, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial ... |
ORPHA:2753 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, 2-3 toe syndactyly, Split hand, Micrognathia, Hypopigmentation of ... |
ORPHA:818 |
Kinsship Syndrome |
|
Dislocated radial head, Hypertrichosis, Micrognathia, Polydactyly, Mesomelia, Pes planus, Synophr... |
OMIM:619297 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Paraproteinemia |
ORPHA:167635 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ... |
OMIM:260920 |
Q Fever |
|