Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Cranio... |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Epicanthus, Hypopigmentation of hair, Short stature, Single transverse palmar crease, Splenomegal... |
OMIM:618541 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Redundant skin, Micrognathia, Short phalanx of finger, Joint laxity, Short stature, W... |
OMIM:225410 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Short thumb, Increased groin pigmentation with raindrop depigmentation, ... |
OMIM:188150 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... |
OMIM:259720 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Death in infancy, Hepatomegaly, Micrognathia, Epiphyseal stippling, High palate |
OMIM:614882 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Death in infancy, Femur fracture, Splenomegaly... |
OMIM:612301 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Renal ... |
OMIM:137940 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:277440 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:264700 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Hyperpigmentation of the skin, Abnormal dental... |
ORPHA:2251 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Short s... |
ORPHA:1816 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone st... |
OMIM:275400 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Multiple unerupted teet... |
ORPHA:2645 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... |
ORPHA:100024 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Tapered finger, Short finger, Abnormality of the nail, Hy... |
OMIM:302000 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Abnormality of th... |
ORPHA:79397 |
Pilarowski-Bjornsson Syndrome |
|
Almond-shaped palpebral fissure, Postnatal growth retardation, Long eyelashes, Prominent fingerti... |
OMIM:617682 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... |
OMIM:209885 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal fingertip morphology, Almond-shaped palpebral fissure, Postnatal growth retardation, Dow... |
ORPHA:529965 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia... |
ORPHA:89937 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Carpal synostosis, Bowing of the long bones, Joint laxity, Short stature, Flared meta... |
OMIM:615349 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Premature graying of hair, Sparse hair, Intrauterine growth retardation, Short statur... |
OMIM:612199 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u... |
ORPHA:2204 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... |
ORPHA:63442 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion contracture, Cutis l... |
OMIM:614438 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia, Lymphadenopathy |
ORPHA:499 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig... |
ORPHA:2780 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Sclerosteosis |
|
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, 2-3 finger syndacty... |
ORPHA:3152 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Short hallux, Limitation of joint mobility, Ectopic ossification in liga... |
ORPHA:337 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph... |
ORPHA:667 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Increa... |
ORPHA:37748 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:3363 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Short sta... |
OMIM:617506 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... |
ORPHA:2228 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the dentition,... |
ORPHA:93160 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... |
ORPHA:2325 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta... |
ORPHA:289157 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... |
OMIM:190320 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... |
OMIM:619718 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Ventricular septal hypertrophy, ... |
OMIM:619322 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Epicanthus, Short stature, Postnatal growth retardation, C... |
ORPHA:2962 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ul... |
ORPHA:2584 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Hypermelanotic macule, Abnormal testis morphology, Tapered finger, Abnor... |
ORPHA:317 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Micrognathia, Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared ... |
OMIM:215045 |
Candidiasis, Familial, 1 |
|
Alopecia, Premature loss of teeth |
OMIM:114580 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... |
ORPHA:2026 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of permanent teeth, T... |
ORPHA:3238 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom... |
OMIM:269920 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased... |
OMIM:136300 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hep... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating asp... |
OMIM:614727 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Telecanthus, Carious tee... |
OMIM:203550 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... |
ORPHA:231226 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Ventricular septal defect, Small for gestational age, ... |
OMIM:616897 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Micrognathia, Iris transillumination defect, Osteo... |
OMIM:617306 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Hamamy Syndrome |
|
Osteopenia, Microcytic anemia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of t... |
OMIM:611174 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Crowded maxillary incisors, Abnormal... |
ORPHA:2063 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelash... |
ORPHA:3051 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial ab... |
ORPHA:476126 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cl... |
ORPHA:2804 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg... |
ORPHA:35107 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c... |
OMIM:156400 |
Gapo Syndrome |
|
Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, High, narro... |
OMIM:230740 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Micrognathia, Increas... |
OMIM:600462 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ... |
OMIM:184260 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... |
OMIM:618476 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Synophry... |
OMIM:612289 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo... |
OMIM:194350 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy... |
OMIM:141300 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... |
ORPHA:77259 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Redundant skin, External genital hypoplasia, Epispadias, High, narrow pala... |
ORPHA:2658 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Alopecia, Short stature, Rhizomelia, Abnormality of the dentition, Limitation of join... |
ORPHA:177 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... |
OMIM:113300 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... |
ORPHA:2785 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Short stature, Single transverse palmar cre... |
ORPHA:73272 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retardation, Adducted thumb... |
OMIM:616603 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... |
OMIM:613573 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt... |
ORPHA:2985 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... |
OMIM:602080 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Calcific stippling of infantile cartilaginous skeleto... |
OMIM:215100 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Delayed eruption of teeth, Camptodactyly ... |
OMIM:612350 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Hypopho... |
ORPHA:2611 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Agenesis of maxillary lateral inc... |
OMIM:210900 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Rosaï-Dorfman Disease |
|
Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Abnormality of the lower limb, Rickets, Hypophosphate... |
OMIM:193100 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Epicanthus, Short stature, Upslanted palpebral fissure, High palate, Intr... |
ORPHA:50812 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h... |
OMIM:259775 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Metaphyseal irregular... |
OMIM:239200 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Bowing of the long bones, Failure to thrive, Hypertriglyceridemia, Elev... |
ORPHA:2088 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay... |
ORPHA:79402 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co... |
ORPHA:166272 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ... |
OMIM:615559 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Orofa... |
ORPHA:1988 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... |
ORPHA:79445 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Supernumerary nipple, Tapered finger, Postnatal growth retardati... |
ORPHA:2896 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Obesity, ... |
OMIM:103580 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Decrea... |
ORPHA:1667 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Aredyld Syndrome |
|
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Short stature, Abnormal dental... |
ORPHA:1133 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Epicanthus, Hypospadias, Macrodon... |
ORPHA:3242 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... |
ORPHA:71267 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Clubbing, Decreased circulating antibody level, Iron deficiency anemia, Clubbing of... |
OMIM:226300 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... |
ORPHA:420561 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cleft lip, ... |
ORPHA:2890 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron defici... |
OMIM:212750 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger... |
ORPHA:2930 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Flattened epiphysis, Flat acetabular ro... |
ORPHA:163649 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... |
OMIM:129400 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Short stature, Cryptorchidism, Absent fifth t... |
OMIM:614607 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Downturned corners of mouth, High palate, Scapular winging, Sho... |
ORPHA:1327 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... |
OMIM:601957 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Short stature, Limb joint c... |
OMIM:612079 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... |
OMIM:620099 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Short humerus, Thin upper lip vermilion, Short femur, Sandal gap... |
OMIM:607143 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sparse eyebrow, Cranial hyperost... |
OMIM:601345 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Scaling skin, Sparse... |
ORPHA:1662 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... |
OMIM:612561 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Short stature, Cachexia, Sparse... |
ORPHA:884 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno... |
ORPHA:93315 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Short stature, Abnormality of the ton... |
ORPHA:47 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Short stature, Camptodactyly of finger, M... |
ORPHA:2863 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hepatomegaly, Iron deficiency anemia, High palate, Decreased body weight |
OMIM:607906 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Hyperphosph... |
OMIM:612462 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ... |
ORPHA:1028 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellul... |
OMIM:616353 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste... |
OMIM:265800 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Enamel hypo... |
OMIM:612463 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa... |
OMIM:214150 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Alopecia, Short stature, Accessory oral frenulum, Osteolysis involving bo... |
ORPHA:88630 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Trisomy 9P |
|
Brachydactyly, Dental crowding, Bilateral single transverse palmar creases, Hypoplastic toenails,... |
ORPHA:236 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o... |
OMIM:613849 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Hepatomegaly, Pes planus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingiva... |
ORPHA:3473 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Split hand, Flexion c... |
ORPHA:2850 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclus... |
ORPHA:562 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Increased cir... |
OMIM:619752 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Death in infancy, Osteomyelitis, Elevated circulating C-reactive protein concentrat... |
OMIM:619423 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Joint hypermobility, Micrognathia, Gingival recession, Long fingers, Upslanted p... |
OMIM:618343 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer fl... |
OMIM:610539 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Short stature, Recurrent fractures, Reduced bone mineral density, Joint hypermobility, Dermal tra... |
OMIM:619115 |
Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Abnormal fingernail morphology, Conical tooth, Hypoplastic toenails, Abnorma... |
ORPHA:952 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Pancytopenia, Short stature, Aplastic anemia, Reticulated skin pigm... |
OMIM:613990 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Fragile nails, Premature loss of teet... |
ORPHA:69087 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Epicanthus, Slow-growing hair, Thick hair, Abnormal dental enamel morp... |
ORPHA:2107 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni... |
OMIM:231095 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Sparse scalp hair, Ptosis, Short stature, Hirsutism, Short distal phalanx of the 5t... |
OMIM:614608 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrop... |
ORPHA:1882 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Aarskog-Scott Syndrome |
|
Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac... |
ORPHA:915 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Alopecia, Macular hypopigmented whorls, streaks, and patches, Thick lower... |
OMIM:300337 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... |
OMIM:272460 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Long philtr... |
OMIM:616354 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Hyperpigmentation in sun-exposed areas |
OMIM:176100 |
Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... |
OMIM:222600 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Nail dys... |
OMIM:212360 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fing... |
ORPHA:3253 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, High palate, Abnormal h... |
ORPHA:2720 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Dental crowding, Short stature, Highly arched eyebrow, Micrognathia, Persistence of p... |
OMIM:618342 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Menkes Disease |
|
Joint laxity, Alopecia, Brittle hair, Short stature, Metaphyseal spurs, Metaphyseal widening, Ost... |
OMIM:309400 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Macs Syndrome |
|
Irregular dentition, Redundant skin, Single transverse palmar crease, Micrognathia, High palate, ... |
OMIM:613075 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Finger syndactyly, Toe sy... |
ORPHA:978 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Persistence of primary teeth, In... |
OMIM:147060 |
Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Micrognathia, Proximal placement of thumb, Synophrys, Low anterior hairli... |
OMIM:300590 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:169154 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp... |
OMIM:104100 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Short stature, Onychauxis, Precocious puberty, ... |
OMIM:262190 |
Sézary Syndrome |
|
Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Abnormal lymph... |
ORPHA:3162 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho... |
ORPHA:811 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Talipes, Abnormal limb bone morphology, Downturned corners of mouth, ... |
ORPHA:251009 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Facial erythema, High palate, Neutropenia, Spar... |
ORPHA:221016 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Craniolenticulosutural Dysplasia |
|
Smooth philtrum, Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxill... |
ORPHA:50814 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Short stature, Tapered f... |
ORPHA:1867 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o... |
OMIM:300882 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplast... |
OMIM:253250 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... |
ORPHA:3240 |
Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, B... |
OMIM:100800 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Pes planus, Broad jaw, Talipes, Abnormal dental enamel morphology, Ope... |
ORPHA:10 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone minera... |
OMIM:620210 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Facial ery... |
OMIM:612843 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Abnormal heart morphology |
OMIM:600252 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... |
OMIM:257850 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocyto... |
OMIM:224120 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Short stature, Recurrent fractures, Joint hypermobility, Dermal translucency |
OMIM:619120 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Wide anterior fonta... |
OMIM:619736 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... |
ORPHA:1775 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Downtur... |
ORPHA:3455 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Small for gestational age, Micromelia, Cardiomegaly, Wid... |
OMIM:613320 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Sparse hair, Micr... |
ORPHA:221008 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Arthritis, Hyperostosis, E... |
ORPHA:2485 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... |
ORPHA:848 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palm... |
OMIM:618373 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... |
OMIM:617780 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Osteolysis, Cleft palate, Hone... |
ORPHA:494 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, High palate, Talipe... |
OMIM:619743 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Carious teeth, Preaxial hand po... |
ORPHA:2316 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P... |
ORPHA:534 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Osteoporosis, Pallor, Hypopigmentation of the ... |
ORPHA:2786 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
Filippi Syndrome |
|
Ambiguous genitalia, Single transverse palmar crease, Postnatal growth retardation, Cryptorchidis... |
OMIM:272440 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Microcytic anemi... |
ORPHA:2959 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... |
OMIM:226650 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Cranioectodermal Dysplasia 4 |
|
Smooth philtrum, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Thin verm... |
OMIM:614378 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ... |
OMIM:614450 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Impaired T cell fun... |
ORPHA:1830 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... |
OMIM:615122 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip ... |
OMIM:300602 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Truncal obesity, Tooth agenes... |
ORPHA:633 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Abnormal metaphysis morphology, Recurrent fractures, Hepatomegaly |
ORPHA:417 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Long toe... |
ORPHA:75496 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreas... |
OMIM:619824 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... |
ORPHA:2484 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Hepatosplenomegaly, Growth delay, Drumstick terminal phalanges, Intrauterine growth... |
ORPHA:541423 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Infantile Liver Failure Syndrome 1 |
|
Long toe, Hepatomegaly, Macrocytic anemia, Acute hepatic failure, Elevated hepatic transaminase, ... |
OMIM:615438 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... |
ORPHA:313855 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa... |
ORPHA:172 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Tented upper lip vermilion, Sandal gap, Small hand, Shor... |
OMIM:618885 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Anemia of inadequate produ... |
OMIM:614900 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Dry skin, Lymphadenopathy, Anemia,... |
ORPHA:39041 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, ... |
OMIM:608540 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Palmoplantar keratoderma, Hypodontia... |
ORPHA:50944 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Decreased liver function, Hepatomegaly |
OMIM:614870 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth... |
OMIM:619841 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Lymphopenia, Brittle hair, Short stature, Bilateral cryptorchidism, Carious teeth, N... |
OMIM:616395 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Joint stiffness, Carious teeth, Bone cyst, Skin ulcer |
ORPHA:2047 |
Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Coarse hair, Oligodontia, Pallor, S... |
OMIM:308300 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron... |
OMIM:614078 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Thin vermi... |
OMIM:241410 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Open bi... |
ORPHA:61 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest... |
OMIM:101800 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Short palm, Sparse h... |
OMIM:268400 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Short philtrum, Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, ... |
ORPHA:235 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone m... |
ORPHA:79444 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Cryptorchidism, Thick lower l... |
OMIM:619797 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res... |
ORPHA:94089 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ... |
OMIM:308230 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum |
OMIM:618913 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum, Femoral... |
OMIM:600785 |
Recon Progeroid Syndrome |
|
Smooth philtrum, Joint laxity, Prominence of the premaxilla, Dental crowding, Short stature, Prox... |
OMIM:620370 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in i... |
ORPHA:37042 |
Momo Syndrome |
|
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... |
ORPHA:2563 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Limited elbow movement... |
OMIM:261540 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Cli... |
OMIM:609638 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Hypoplasia of penis, Failure to thr... |
ORPHA:2315 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... |
OMIM:604416 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Small for gestational age, Tapered finger, Micrognathia, Hypoplasia... |
OMIM:216550 |
Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... |
OMIM:619947 |
Cystinosis |
|
Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive |
ORPHA:213 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concent... |
OMIM:227810 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Natal tooth, Epicanthus, Sparse eyelashes, Proteinuria, Short stature, Microgn... |
OMIM:616901 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty, Joint ... |
OMIM:615704 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... |
OMIM:618506 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ... |
OMIM:619750 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Weight loss, Ly... |
ORPHA:514 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pa... |
ORPHA:37 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
Ane Syndrome |
|
Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas... |
ORPHA:157954 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p... |
ORPHA:79443 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ... |
OMIM:300636 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hy... |
OMIM:616026 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Abnormal hand bone ossification, Abnormality of skin pigmentation, C... |
OMIM:300244 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy |
OMIM:611762 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, High palate, Short philtrum, Short stature... |
OMIM:615866 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Telecanthus, Conical tooth, Abnormality of the dentition, Cryptorchidism... |
ORPHA:228390 |
Short Syndrome |
|
Alopecia, Telecanthus, Severe short stature, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:3163 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... |
OMIM:619795 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Micrognathia, Conical tooth, Ankyloblepharon, Hyperconvex fingernails, Coarse hair, Widely spaced... |
ORPHA:1071 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate... |
ORPHA:2712 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Palmoplantar blistering, Paronychia, Onychogryposis of ... |
ORPHA:2309 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Abno... |
ORPHA:286 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, Pt... |
ORPHA:525 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Microg... |
OMIM:301045 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, ... |
ORPHA:1842 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail mor... |
ORPHA:464 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit... |
ORPHA:2323 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial effusion, Weig... |
ORPHA:2905 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality... |
ORPHA:2314 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative bur... |
OMIM:226990 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Jo... |
OMIM:300990 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Micrognathia, Short toe, Flexion contracture, Retrognathia, High palate, Talip... |
ORPHA:98791 |
Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism... |
ORPHA:85279 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormality of the dentition, Absent eyelas... |
ORPHA:90153 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Lymphadenopathy |
OMIM:617772 |
12Q14 Microdeletion Syndrome |
|
Hyperpigmentation of the skin, Short stature, Ectopic kidney, Micrognathia, Abnormality of the sp... |
ORPHA:94063 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Arthritis, Lymphadenopathy |
ORPHA:42642 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Widely space... |
OMIM:106260 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Pes planus, Delayed eruption of teeth, Down-sloping shoulders, Abnormal de... |
ORPHA:96263 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal tricuspid valve morphology, High palate, Widely spaced teeth,... |
ORPHA:192 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Alopecia totalis, Micrognathia, Hypoplastic ... |
ORPHA:1234 |
Kabuki Syndrome 2 |
|
Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Short stature, Highly arched e... |
OMIM:300867 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal... |
OMIM:620269 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... |
OMIM:619751 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Nail pits,... |
OMIM:127550 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Talipes, Abnormality of the dentition, Avascular necrosis of the capita... |
ORPHA:502 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul... |
ORPHA:97290 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel... |
ORPHA:50945 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short... |
OMIM:605130 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, High pal... |
ORPHA:800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level... |
ORPHA:98813 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Redundant skin, Wide mouth, Sparse or absent ... |
ORPHA:1231 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, Abnormal size of the palpebral ... |
ORPHA:3214 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Epispadias, Conical incisor, M... |
ORPHA:289 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul... |
ORPHA:319487 |
Rapadilino Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Absent thumb, Sparse eyebrow, High, narrow pa... |
OMIM:266280 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Abnormal hair morphology, Joint stiffness, Flexion contracture, Lack of s... |
ORPHA:1979 |
Kury-Isidor Syndrome |
|
Ptosis, Alopecia, Tented upper lip vermilion, Finger syndactyly, Brachydactyly, Proximal placemen... |
OMIM:619762 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micr... |
OMIM:616367 |
Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Autoamputation of digits, Multiple joint contractures, Palmoplantar hyperkera... |
ORPHA:100976 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anemia, Cholestasis, ... |
ORPHA:440713 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Sparse hair, Clinodacty... |
OMIM:613026 |
H Syndrome |
|
Microcytic anemia, Micropenis, Alopecia, Short stature, Cleft upper lip, Gingival overgrowth, Hep... |
ORPHA:168569 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Low ant... |
ORPHA:193 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... |
ORPHA:79301 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatospl... |
OMIM:619013 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Stage 5 chronic kidne... |
OMIM:608612 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Eosinophilia, Abnormality of the dentition, Micrognathia, Sterile absces... |
OMIM:618282 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Small for gestational age, Hypochromic microcytic anemia, Death in chil... |
OMIM:619147 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Mic... |
OMIM:145420 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Epicanthus, Hypospadias, Toe syndactyly, Supernumerary nipple, Abnor... |
ORPHA:3224 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Lower e... |
OMIM:118400 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Progressive cervical vertebral spine fusion, Ectopic ossification in ten... |
OMIM:135100 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Short stature, Hemolytic anemia, Thrombocyto... |
OMIM:263700 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Hyperphosphaturia, Abnormality of dental color, Short stature, Recurrent fr... |
OMIM:163200 |
Monosomy 18P |
|
Alopecia, Epicanthus, Short stature, Brachydactyly, Micrognathia, Carious teeth, Cleft palate, Lo... |
ORPHA:1598 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, External genital hypoplasia, Thin nail, Abnormal hair morphology, Short toe, Erythema, ... |
OMIM:242100 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Conical incisor, Oligodontia, Cutaneous finger... |
OMIM:235510 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Ventricular septal defect, Coxa valga, Taper... |
OMIM:301040 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Hy... |
ORPHA:2269 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Abnormality of skin pi... |
ORPHA:79411 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Sh... |
ORPHA:2067 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Osteopenia, Single transverse palmar crease, Recurrent ... |
ORPHA:2324 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Abnormal palmar dermatoglyphics, Abnormality of the de... |
OMIM:620040 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... |
ORPHA:353298 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Short philtrum, Hypocalcemia, Finger syndactyly, Abnormal dental... |
ORPHA:2136 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Retrognathia, ... |
OMIM:604273 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:613576 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... |
ORPHA:355 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Short stature, Craniosynostosis, Micro... |
ORPHA:166035 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Noncompaction cardiomyopathy, Eosinophilia, Vent... |
OMIM:616651 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Increase... |
ORPHA:77261 |
Barth Syndrome |
|
Mandibular prognathia, Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic micro... |
OMIM:302060 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patchy alopecia, N... |
OMIM:615387 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology... |
ORPHA:2457 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Postaxial hand polydactyly, Abnormality of the anterior pi... |
ORPHA:75389 |
Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Clubbing, Hypochromic microcytic anemia, Hepatosplenome... |
ORPHA:96123 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal d... |
OMIM:614576 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi... |
ORPHA:129 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph... |
OMIM:123000 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... |
OMIM:256550 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased palmar creases, Triphalangeal thumb, Aplasia of the ova... |
ORPHA:2232 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturn... |
OMIM:618067 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Death in infancy, Elevated circulating hexacosanoic acid concentration, Jaundice, E... |
OMIM:614872 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Ptosis, Joint laxity, Redundant neck skin, Redundant skin, Unilateral renal agenesis,... |
ORPHA:90348 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Toe syndactyly, Failure to thrive in infancy, Tented upper lip... |
ORPHA:819 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Brachydactyly, Abnormal dental enamel morpholo... |
ORPHA:1005 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Periodontitis, Finger joint hypermobility, Uterin... |
OMIM:130050 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Narrow mouth, Delayed eruption of permanent teeth, Short distal phalanx of toe, Atr... |
OMIM:619356 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Ptosis |
ORPHA:1067 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosis, Tooth agene... |
OMIM:605676 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume... |
ORPHA:3474 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Failure to thrive, Hyperlipidemia, Osteo... |
ORPHA:369 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi... |
ORPHA:54028 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Pes planus, Delayed eruption of teeth, Down-sloping shoulders, Abnormal de... |
ORPHA:96264 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, ... |
OMIM:619488 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy... |
OMIM:603554 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Cicatricial la... |
OMIM:263650 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hypotrichosis 3 |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Abnormal sweat glan... |
OMIM:613981 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,... |
ORPHA:69085 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, ... |
OMIM:617591 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Hypertrophic cardiomyopathy, ... |
OMIM:614096 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Micr... |
ORPHA:2409 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Small for gestational age, Hypospadias, Highly arched eyebrow, Micrognathia, Postnata... |
OMIM:614541 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Satoyoshi Syndrome |
|
Alopecia, Short metacarpal, Short stature, Short metatarsal, Osteolytic defects of the phalanges ... |
OMIM:600705 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,... |
OMIM:176920 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Pyoderma gangrenosum, Recurrent sinusitis, Thrombocytopenia |
OMIM:616576 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:608799 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Brittle hair, Short stature, Joi... |
OMIM:607812 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Renal hypoplasia, Cleft palate, Growth dela... |
ORPHA:85284 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv... |
OMIM:614034 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Genu valgum, Irregu... |
ORPHA:263463 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Palmoplantar keratoderma, Failure to thrive, Abnormality of the nail, Ec... |
ORPHA:79394 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Portal hypertens... |
ORPHA:465508 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal... |
ORPHA:2750 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar deviation of fing... |
ORPHA:949 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met... |
OMIM:602557 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Ova... |
ORPHA:2221 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... |
OMIM:617994 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology... |
ORPHA:90154 |
Werner Syndrome |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Increased bone mineral density, Short sta... |
ORPHA:902 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Abnormal cardiac septum morphology, Decreased circulating antibody level |
ORPHA:99811 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Osteolysis, Growth delay, Malar flattening, Generalized osteoporosis |
OMIM:176670 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Car... |
OMIM:619046 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Microphallus,... |
ORPHA:94065 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, F... |
OMIM:613561 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Death in infancy, Thrombocytopenia, Metaphyse... |
OMIM:617941 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi... |
OMIM:618825 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Lympha... |
OMIM:304790 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Joint stiffness, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:1366 |
Trichothiodystrophy |
|
Ridged nail, Osteopenia, Brittle hair, Multiple joint contractures, High, narrow palate, Conjunct... |
ORPHA:33364 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eye... |
ORPHA:35173 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-... |
OMIM:615630 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Decrease... |
OMIM:272300 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Cryptorchidism, Orbital cyst, Cleft palate, Eyelid coloboma |
OMIM:164180 |
Liver Disease, Severe Congenital |
|
Joint laxity, Failure to thrive, Dry hair, Hypospadias, Epicanthus, Micrognathia, Biliary hyperpl... |
OMIM:619991 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... |
ORPHA:85212 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Everted lower lip vermilion, Ectropion |
OMIM:242510 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Elevated c... |
OMIM:618805 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Ric... |
OMIM:219800 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Knee dislocation, Shoulder disloca... |
OMIM:245600 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Death in infancy, Elevated circulating creatinine concentration,... |
OMIM:608104 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Oligodontia, Bile duct prol... |
OMIM:607626 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot... |
ORPHA:2616 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do... |
ORPHA:261494 |
Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Onychauxis, Low anterior hairline, Nephrocalcinosis, Prem... |
ORPHA:769 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Abnormality of th... |
ORPHA:69735 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal... |
OMIM:244460 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Everted lower lip vermilion, Nail dys... |
OMIM:242300 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit... |
OMIM:616145 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Single transverse ... |
OMIM:610253 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis,... |
OMIM:601853 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Craniosynostosis, Oral mucosal blisters, Erythema, Depig... |
ORPHA:79396 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Abnormality of the gingiva, High, narr... |
ORPHA:3107 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Ptosis, Severe short stature, Sho... |
OMIM:309900 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hepatomeg... |
OMIM:269860 |
Xylt1-Cdg |
|
Joint laxity, Hepatomegaly, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Truncal obes... |
ORPHA:370930 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Clinodactyly of th... |
ORPHA:2108 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased proportion... |
OMIM:606367 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef... |
ORPHA:158687 |
Hemochromatosis, Type 1 |
|
Alopecia, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Azoospermia, Testicular atro... |
OMIM:235200 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Slender long bone, Sho... |
OMIM:612921 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Elevated circulating crea... |
OMIM:109130 |
Dent Disease 2 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:300555 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... |
OMIM:143095 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Clinodactyly of the 5th finger, P... |
OMIM:615637 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaphyseal widening... |
OMIM:252500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... |
OMIM:620306 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia |
ORPHA:1046 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Hyperconvex fingernails, Downturned corners of mouth, Advanced eruption of teeth, ... |
ORPHA:2215 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Abnormal pericardium morphology, Retroperitoneal f... |
ORPHA:35687 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Palmoplantar keratoderma, Nail dystrophy, Hypodontia, E... |
OMIM:616029 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Micrognathia, Narrow palat... |
OMIM:617022 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypop... |
ORPHA:257 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Arachnodactyly, Joint hypermobility, Cardiomegaly, Narrow mouth, T... |
ORPHA:2463 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Flexion contracture, Growth delay, Conjunctivitis, Nail dystroph... |
OMIM:226600 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, High, narrow palate, S... |
OMIM:122470 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam... |
OMIM:260400 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Odontomicronychial Dysplasia |
|
Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee... |
ORPHA:1811 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sc... |
OMIM:602271 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Ge... |
OMIM:615777 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... |
OMIM:250250 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, Clinodactyly of t... |
OMIM:261990 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Clubbing, Anemia, Clubbing of fingers, Nail dystrophy, Nail dysplasia, Glossi... |
OMIM:175500 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Short ... |
ORPHA:85201 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Flexion contracture |
ORPHA:77260 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, H... |
OMIM:601812 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... |
OMIM:275350 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Abnor... |
ORPHA:79665 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Hepatic steatosis, Methy... |
ORPHA:17 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal... |
ORPHA:3035 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th... |
OMIM:612562 |
Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Palmoplantar k... |
ORPHA:218 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Abnormal foot morphology, Perimembranous ventricular septal defect, High palate, Wi... |
OMIM:618205 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Osteoporosis, Increased body weight, Hirsutism |
OMIM:615830 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Failure to thrive in infancy, Card... |
OMIM:619064 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Pterygium, Alopecia, Short stature, ... |
ORPHA:910 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Mandibular prognathia, Coxa valga, Epiphyseal deformities of tubular ... |
OMIM:253010 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Abnormal limb bone morphology, Melanocytic nevus,... |
ORPHA:1573 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Limitation of joint mobility, Osteolysis, Sy... |
ORPHA:47612 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Hypospadias, Micropenis |
OMIM:618840 |
Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel... |
ORPHA:140936 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... |
OMIM:167210 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Spl... |
OMIM:608013 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Sandal gap, Joint hypermobility, Overweight, Carious ... |
OMIM:619229 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Glossoptosis, High palate, Rhizomelia, Squared iliac bones, Giant plate... |
OMIM:611209 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Small for gestational age, Short stature, Elbow contractur... |
OMIM:616489 |
Cerebellofaciodental Syndrome |
|
Pes planus, Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all dis... |
OMIM:616202 |
Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic st... |
OMIM:617303 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Squar... |
ORPHA:2746 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Short stature, Aplastic anemia, Abnormality of the dentition, R... |
OMIM:613989 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Hyperpho... |
OMIM:211900 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the lymphatic system, Frecklin... |
ORPHA:618 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Thrombo... |
ORPHA:508542 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Limitation o... |
ORPHA:108 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Hyperhomocystinemia, Normochromic anemia... |
OMIM:614857 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis, Growth delay, Weight loss, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl... |
ORPHA:508488 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Neutropenia, Abnormal bone... |
ORPHA:175 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Satoyoshi Syndrome |
|
Short stature, Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Abnormal fem... |
ORPHA:3130 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Micrognathia, Muscular ventricular septal defect, Absent patellar reflexes, Fa... |
OMIM:620071 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Pulmonic stenosis, Hypochromic anemia, Aortic valve stenosi... |
ORPHA:99147 |
Emanuel Syndrome |
|
Redundant neck skin, Dental crowding, Hooded eyelid, Multiple joint contractures, Micrognathia, H... |
ORPHA:96170 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ... |
OMIM:613312 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... |
ORPHA:2250 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Joint stiffness, Carious teeth, Sp... |
OMIM:253200 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... |
ORPHA:1787 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Hepatomegaly, Neutrophilia, Overlapping toe, Small for gestational age, Se... |
ORPHA:99843 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,... |
OMIM:300534 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... |
OMIM:157980 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Fibromuscular Dysplasia, Multifocal |
|
Dental crowding, Joint hypermobility, Micrognathia, High palate, Malar flattening, Downslanted pa... |
OMIM:619329 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Small for gestational age, Micrognat... |
OMIM:269880 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Gingival overgrowth, Fine hair, Hematuria, Furrowed tongue, Sparse hair, Abnormal morph... |
ORPHA:1839 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:733 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Mi... |
ORPHA:330015 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Comple... |
OMIM:617925 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Abnormal circulating selenium concent... |
ORPHA:79408 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational... |
OMIM:616229 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Micrognathia, Cutis laxa, Narrow palpebral fissure,... |
OMIM:614437 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum, Wide mouth, Joint hypermobility |
OMIM:617798 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Micrognathia, Low anterior hairline, Narrow palpebral ... |
OMIM:614219 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... |
OMIM:206920 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Mandibular prognathia, Abnormal heart valve morphology, Coxa valga, E... |
OMIM:253000 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Retrognathia,... |
OMIM:619269 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Female hypogonadism, Asplenia, Keratoconjunctivitis, Nephrocalcinos... |
OMIM:240300 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of the philtrum, Micromelia, Abnormal ... |
ORPHA:1597 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Flexion contracture, Retrognathi... |
OMIM:263210 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, Long fingers, High, narrow palate, Hip dislocation, Positional foot d... |
ORPHA:96092 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Thrombocytopen... |
OMIM:224230 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Small for gestation... |
OMIM:277380 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma |
OMIM:175100 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia,... |
OMIM:268310 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Splenomegaly, Mi... |
OMIM:301072 |
Sotos Syndrome |
|
Joint laxity, Pes planus, Mandibular prognathia, Ventricular septal defect, High, narrow palate, ... |
OMIM:117550 |
Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Toe syndactyly, S... |
OMIM:103285 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Nail dysplasia, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Abnormal fingernail morphology, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Dubowitz Syndrome |
|
Aplastic anemia, Single transverse palmar crease, Micrognathia, High palate, Clinodactyly of the ... |
OMIM:223370 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski... |
OMIM:133540 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Auto... |
ORPHA:1855 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Metaphyseal widening, Triangular shape... |
ORPHA:73230 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxia... |
OMIM:610168 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Cleft p... |
OMIM:609192 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Failure to thrive, T... |
OMIM:229050 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi... |
OMIM:159550 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... |
OMIM:604757 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Coxa valga, Splenomegaly, Protruding tongue, Gingival overgrowth, ... |
OMIM:230600 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... |
OMIM:617865 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis... |
ORPHA:27 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis |
OMIM:615978 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Eleva... |
OMIM:610377 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... |
ORPHA:289494 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Oral mucosal blisters, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Na... |
ORPHA:158681 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Sh... |
OMIM:311200 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Periorbit... |
ORPHA:261323 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypophosphatemia, Pancreatitis |
OMIM:600740 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Clubbing, Biliary tract abnormality, Oral melanotic ma... |
OMIM:175200 |
Papa Syndrome |
|
Arthritis, Limitation of joint mobility, Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... |
OMIM:606069 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteolysi... |
ORPHA:809 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n... |
OMIM:616050 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Cardiomegaly, Retrognathia, Hepatosplenomegaly, De... |
ORPHA:79330 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Pierre-Robin sequence, ... |
OMIM:619184 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, High ... |
OMIM:608836 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hy... |
OMIM:264090 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... |
OMIM:618727 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spac... |
OMIM:280000 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Large for gestational... |
ORPHA:544488 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Dense c... |
OMIM:252920 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Death in infancy, Bicuspid aortic valve, Short long bone, Hypoplastic left hear... |
OMIM:618845 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Decr... |
OMIM:618278 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski... |
OMIM:216400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Atr... |
OMIM:300373 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hyp... |
OMIM:613385 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... |
ORPHA:508533 |
Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosi... |
OMIM:231050 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Joint laxity, Hypospadias, Cryptorchidism, Prominent eyelashes, Small nail... |
ORPHA:1465 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, ... |
ORPHA:583 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Lig4 Syndrome |
|
Hypoplasia of penis, Epicanthus, Telecanthus, Pancytopenia, Micrognathia, Cryptorchidism, Leukocy... |
ORPHA:99812 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... |
OMIM:606003 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Oral ulcer, Lymphadenopathy, Hematuria, N... |
ORPHA:93552 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst... |
OMIM:236270 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... |
ORPHA:2256 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Selective tooth agenesis, Cleft upper lip, Carious teeth, 4-5 finger syndac... |
OMIM:164200 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... |
OMIM:611717 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy |
ORPHA:85414 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Single transverse palmar crease, Micrognathia, Absent middle phalanx of 3r... |
OMIM:308050 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo... |
ORPHA:1451 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... |
OMIM:228520 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Fused sternal ossifica... |
OMIM:211750 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Spleno... |
OMIM:170100 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fle... |
ORPHA:1194 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Broad hallux, Microcytic anemia, Micrognathia, Genu valgum, Bifid uvula, Contrac... |
ORPHA:293967 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Limitation of joint mobility, Abnormality of the tonsils |
ORPHA:93476 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Absent toe, Split hand, Absent hand, Aplastic/hypopla... |
ORPHA:974 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Short stature, Single transverse palmar crease, Micromelia, Broad hallux,... |
OMIM:614800 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy |
OMIM:619183 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Redundant skin, Micrognathia, Equinus calcaneus, High palate, Periodontitis, Prematur... |
ORPHA:536532 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Epicanthus, Small for gestational age, Short stature, Postnatal growth retardation, Lon... |
OMIM:613355 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Failure to thrive in infancy, Abscess, Ele... |
OMIM:612852 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Thin upper lip vermilion, E... |
OMIM:232400 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Failur... |
OMIM:618234 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Tapered finger, Micrognathia, Dental malocclus... |
ORPHA:444072 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Advanced eruption of teeth, Hypertrophic cardio... |
ORPHA:2348 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Palmoplantar keratoderma, Conjunctivitis, Sparse hair, Failure to thrive... |
OMIM:242150 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crow... |
OMIM:609029 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Tapered finger, Supernumerary tooth, Thin vermilion border, Abnormal aortic valve morphology, Ell... |
ORPHA:86818 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... |
ORPHA:666 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Cryptorchidism, ... |
ORPHA:90322 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ... |
OMIM:618440 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth, Cleft palate, Gi... |
OMIM:602398 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis |
OMIM:616719 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Osteoporosis,... |
ORPHA:79259 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Sandal gap, Elevated cir... |
ORPHA:79322 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Mandibular... |
ORPHA:143 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
OMIM:607765 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P... |
OMIM:215150 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Brachydactyly, Muscular ventricular septal defect, Adducted thumb |
OMIM:620062 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Sinu... |
OMIM:613179 |
Wrinkly Skin Syndrome |
|
Osteopenia, Redundant skin, Neonatal wrinkled skin of hands and feet, Coxa vara, High palate, Spa... |
OMIM:278250 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Dry skin, Cutis laxa, Abnormality of skin pigmentation, Failure to thrive, Hyp... |
OMIM:612379 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Bilateral crypt... |
OMIM:613451 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... |
ORPHA:59303 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Micrognathia, Spleno... |
ORPHA:280365 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Proteinuria, Splenomegaly, Skin ulcer, Reduced bone mineral density... |
ORPHA:834 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... |
ORPHA:160 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Hepatic failure, Enamel hypoplasia |
ORPHA:3196 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Wrinkly Skin Syndrome |
|
Osteopenia, Excessive skin wrinkling on dorsum of hands and fingers, Generalized joint laxity, Co... |
ORPHA:2834 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrio... |
ORPHA:324410 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Prolidase Deficiency |
|
Hepatomegaly, Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Genu valgum, Reduced bon... |
ORPHA:742 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Thin upper lip vermilion, Elevated circu... |
ORPHA:329178 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Redundant skin, Hypoplasia of the maxilla, Abnormality of skin pigmentation,... |
ORPHA:920 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, Hepatic fibrosis, High palate, Microdontia, Synd... |
OMIM:614091 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic no... |
ORPHA:100075 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe... |
ORPHA:66634 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, 11 pairs of ribs, Death in infancy, Rocker bottom foot, Acanthocytosis, Microg... |
OMIM:618947 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular ... |
OMIM:613404 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypogonadism, Hypopigmented skin patches |
ORPHA:3143 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Prematur... |
ORPHA:79474 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalc... |
OMIM:601005 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Increased circulating very long-chain fatty acid concentration, Hepatomegaly |
OMIM:614859 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Cleft soft palate, Short stature, Leukocytosis, Flexion contractu... |
OMIM:619321 |
Beck-Fahrner Syndrome |
|
Pes planus, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, O... |
OMIM:618798 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Re... |
OMIM:603553 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Sparse hair, Clinod... |
ORPHA:2636 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Fl... |
ORPHA:1865 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pes planus, Ventricular septal de... |
OMIM:619525 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos... |
OMIM:617088 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Short philtrum, Hypoalbuminemia, Abnormal bone ossific... |
ORPHA:79324 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Abnormal dental morphology, Osteomalacia, Micromelia, Camptodac... |
ORPHA:2176 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Clitoral hypertrophy, Hyperpigmentation of the skin, Short stature, Isosexual precociou... |
ORPHA:90795 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t... |
OMIM:615415 |
Hurler Syndrome |
|
Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, Hepatomegaly,... |
OMIM:607014 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperker... |
ORPHA:79395 |
Alstrom Syndrome |
|
Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:203800 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... |
ORPHA:1193 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad... |
OMIM:260920 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Mandibular prognathia, Foot joint contracture, Delay... |
ORPHA:90321 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Microdontia, Radi... |
OMIM:210720 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Large for gestational age, Tapered finger, Abnormality of the dentition, Thick lower... |
ORPHA:261652 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thum... |
OMIM:105650 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... |
OMIM:300946 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Death in infancy, Sple... |
OMIM:615512 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the dentition, Erythema, Dental malocclusion, Hyp... |
ORPHA:90289 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, High, narrow palate, Hepatic fibrosis, High palate, Widely spaced teeth, H... |
OMIM:218330 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Synophrys, Low anteri... |
ORPHA:199 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Crani... |
OMIM:301056 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Tongue fasciculations, Microcytic anemia |
OMIM:618811 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Wide ... |
OMIM:608776 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia... |
OMIM:601559 |
Isolated Cleft Lip |
|
Small for gestational age, Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharynge... |
ORPHA:199302 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Failure to thriv... |
ORPHA:79312 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Small for gestational age, Hypospadias, Micrognathia, Postnatal growth... |
ORPHA:397590 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Death in c... |
OMIM:618961 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Narrow philtrum, Rhizo-meso-acromelic limb shor... |
ORPHA:163654 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulati... |
OMIM:605309 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Adducted thumb |
OMIM:601815 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233710 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Micrognathia, Metatarsus adduct... |
OMIM:214110 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cleft palate, Thin vermilion border, Narrow mouth, Atrial septal defect, Incisor macrodontia, Lon... |
OMIM:615502 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Clubbing, Iron deficiency anemia, Bacterial endocarditis |
ORPHA:2038 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Polydactyly, Postaxial, Type A6 |
|
Abnormal sweat gland morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Broad ph... |
OMIM:615226 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hyperkeratosis, P... |
OMIM:300918 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Postnatal growth retardation... |
OMIM:302960 |
Hermansky-Pudlak Syndrome 2 |
|
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Reduced ... |
OMIM:608233 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Recurrent fractures, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:606056 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Osteopathia striata, S... |
OMIM:305600 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... |
ORPHA:290 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Perica... |
ORPHA:464329 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... |
ORPHA:227990 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Failure to thrive |
ORPHA:411629 |
Adnp Syndrome |
|
Urinary incontinence, Single transverse palmar crease, Abnormal finger morphology, Advanced erupt... |
ORPHA:404448 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Neutropenia |
OMIM:612563 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Keutel Syndrome |
|
Alopecia, Short stature, Recurrent sinusitis, Short distal phalanx of finger |
ORPHA:85202 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Overweight, Persistence... |
OMIM:619769 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Abnormality of the nail, Finge... |
ORPHA:2092 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Coxa valga, Micrognathia, Splenomegaly, Long fingers, Fl... |
OMIM:608149 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Rhizomelia, Elbow contracture, Annular pancreas, 2-3 toe syndactyly, Knee f... |
OMIM:618162 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Hypophosphatemia, Mandibular pain, Pancre... |
ORPHA:99880 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Osteoarthritis, Cystocele, Dental malocclusion, K... |
OMIM:613795 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... |
ORPHA:227982 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... |
ORPHA:124 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Olmsted Syndrome 2 |
|
Cheilitis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Flexion contracture of digit, S... |
OMIM:619208 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short digit, Short fourth metatarsal, Hepatomegaly, Multiple joint contractures, Ca... |
OMIM:618143 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Pes planus, Genu recurvatum, Malar flattening, Narrow palate... |
ORPHA:364028 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic hepatic failure |
ORPHA:469 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Hypoalbuminemia, Bifid uvula, Hepatomegaly, Increased mean platelet volume, Abn... |
OMIM:222470 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Deep philtrum, Finger joint hypermobility, Sparse hair, Joint laxity, Juvenile myelomonocytic leu... |
OMIM:613563 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... |
ORPHA:276 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Micrognathia, Flexion contracture, Scaling skin, Neonatal death, Hypospadia... |
OMIM:275210 |
Giant Cell Arteritis |
|
Renal insufficiency, Alopecia, Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Weight l... |
ORPHA:397 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Everted lower lip vermilion, Ectropion |
OMIM:275630 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Abnormal palate morphology, Arthritis, Recur... |
ORPHA:575 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233690 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... |
OMIM:614524 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... |
ORPHA:828 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, A... |
ORPHA:829 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... |
OMIM:619652 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Elevated circulating growth hormone concentration, Micrognathia, Postn... |
OMIM:608747 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Decreased response to growth hormone stimul... |
ORPHA:293978 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Abnormality of the dentition, Skin ulcer, Fine hai... |
ORPHA:1806 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ptosis, Alopecia, Short stature, Obesity, Abnormal granulocyte morphology, Shoulder girdle muscle... |
ORPHA:98907 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Failure to thrive |
OMIM:610768 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Natal tooth, Ptosis, Redundant neck skin, Hypospadias, Overlapping toe, Craniosyno... |
OMIM:123790 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spaced teeth, H... |
OMIM:266920 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dental crowding, Micrognathia,... |
OMIM:615381 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated... |
ORPHA:3243 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Generalized lymphadenopathy, Palpebral edema, Thrombocytopenia, Splenomegaly, Erythema,... |
ORPHA:50918 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Death in infancy, Hand polydactyly, Hypodontia, Failure to thrive |
ORPHA:2971 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Small hand, Osteoporosis... |
ORPHA:2796 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finge... |
ORPHA:818 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Ectopic kidney, Conical tooth, Prominent interphalange... |
OMIM:135900 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Increased mean platelet volume |
OMIM:617443 |
Eisenmenger Syndrome |
|
Hepatomegaly, Brain abscess, Ventricular septal defect, Elevated circulating C-reactive protein c... |
ORPHA:97214 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Hematuria, Keratoconjunctiviti... |
OMIM:158310 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pedal edema, Lymphaden... |
ORPHA:33226 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion... |
OMIM:269500 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Failure to thrive, Hyperhomocystinemia, Megaloblastic anemia |
OMIM:250940 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, A... |
OMIM:612651 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Hypospad... |
ORPHA:96176 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Striae distensae, Pituitary adenoma, Primary hyperpar... |
ORPHA:189427 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Ascites, Hyperalan... |
OMIM:614702 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Increased susceptibility to fractures, H... |
ORPHA:3337 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Death in infancy, Micromel... |
ORPHA:1318 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thin upper lip vermilion, Death in infancy, Ventricular septal defect, Micrognathia... |
OMIM:235255 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Hypocholesterolemia... |
OMIM:266510 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Conical incisor, Joint laxity, Scapular winging, Abnormality... |
ORPHA:73223 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... |
OMIM:610198 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hypercalciuria, Reduced bone mineral density, Nephrocal... |
ORPHA:428 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, High, nar... |
ORPHA:3166 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of t... |
ORPHA:96149 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Hypogonadism, Urinary bladder sphincter dysfunction, Hyperpigment... |
OMIM:300100 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Elev... |
OMIM:614376 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Macroves... |
OMIM:619127 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal d... |
OMIM:249420 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Coxa valga, Splenomegaly, Vacuo... |
OMIM:230000 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Aortic valv... |
OMIM:230800 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth retardat... |
ORPHA:453533 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:416 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Bone marrow hypocellularity, ... |
OMIM:620133 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Hyperammonemia, Anemia |
ORPHA:28 |
Acatalasemia |
|
Premature loss of permanent teeth, Severe periodontitis, Microcytic anemia, Oral ulcer, Gingiviti... |
ORPHA:926 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Reduced bone... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Reduced bone... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Reduced bone... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Micrognathia, Reduced bone... |
ORPHA:881 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Abnormal dental morpholog... |
ORPHA:568 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Splen... |
ORPHA:354 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Mandibular prognathia, Micrognathia, Abnormality of canine, Iron deficiency anemia, High palate, ... |
ORPHA:261584 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the de... |
ORPHA:158668 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Failure to thrive, Eosinophilia, Hypercalcemi... |
ORPHA:199299 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyperglycinemia... |
OMIM:606054 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Oligodontia, Palmoplantar keratoderma, Microcytic anemia |
ORPHA:324737 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Flexion contracture, Palmoplantar keratoderma... |
OMIM:614594 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Short stature, Upslanted palpebral fissure, Patchy alopecia, Broad dist... |
OMIM:617763 |
Triploidy |
|
Finger syndactyly, Hepatomegaly, Micrognathia, Abnormality of the pancreas, Non-midline cleft lip... |
ORPHA:3376 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... |
OMIM:214500 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Lymphad... |
ORPHA:343 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia |
OMIM:225050 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Mandibular prognathia, Congenital hip dislocation, Joint hypermobility, T... |
OMIM:616007 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho... |
ORPHA:79278 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease,... |
OMIM:247200 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Growth delay, Nail dystrophy, Bone marrow hypocellul... |
OMIM:613987 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ... |
ORPHA:97289 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa... |
ORPHA:83617 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... |
OMIM:229600 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Thin nail, Dental crowding, Delayed eruption of primary teeth, Short s... |
OMIM:617799 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt... |
ORPHA:3464 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Long eyelashes, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363958 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Enlarged labia minora, Gingival fibromatosis, Narrow pa... |
OMIM:266270 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Micrognathia, Postnatal growth retardation, Crypto... |
ORPHA:1655 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Hypertriglyceridemia, Long foot, Bone cyst, Macroglossia, La... |
ORPHA:528 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, S... |
OMIM:269150 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, D... |
OMIM:248500 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Orotic Aciduria |
|
Ventricular septal defect, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Renal insufficiency, Alopecia, Proteinuria, Glo... |
ORPHA:90291 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Lymphad... |
ORPHA:100078 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Slow-growing nails, Thin nail, Short nail |
OMIM:601319 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Joint stiffness, Paratracheal lymphadeno... |
OMIM:615934 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexos... |
OMIM:252600 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Cleft palate, Abnormal heart morphology, Hyperhomocystin... |
ORPHA:79284 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2238 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Bilateral coxa va... |
OMIM:618268 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Synophrys, Epicanthus inversus, Clinodactyly of the... |
OMIM:257920 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries,... |
ORPHA:2298 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Micrognathia, Hypoplasia of the ma... |
OMIM:180849 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Failure to thrive secondary to r... |
OMIM:601457 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Hyperphosphatemia, Increased body weight |
ORPHA:94086 |
Bloom Syndrome |
|
Micrognathia, Paronychia, Hypopigmentation of the skin, Decreased proportion of CD4-positive T ce... |
ORPHA:125 |
Vulvovaginal Gingival Syndrome |
|
Oral ulcer, Abnormality of tumor necrosis factor secretion, Gingivitis |
ORPHA:83453 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... |
ORPHA:2137 |
Distal Deletion 19P |
|
Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Join... |
ORPHA:96129 |
Leigh Syndrome |
|
Ptosis, Alopecia, Multiple joint contractures, Lacticaciduria, Methylmalonic aciduria, Generalize... |
ORPHA:506 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar... |
OMIM:620076 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Abnormal palmar dermal ridges, Decreased number of sweat glands |
OMIM:241120 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Lower limb asymmetry, Abnormal tricuspid valve morphology, Atria... |
ORPHA:90308 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Spars... |
OMIM:620186 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Macroglossia... |
OMIM:251900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:608779 |
Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Elevated circulating C-rea... |
ORPHA:178320 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Hypertriglyceridemia, Ventricular septal defec... |
OMIM:619418 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Abnormalit... |
ORPHA:94059 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Odontogenic keratocysts of the jaw, Hyperlipidemia, Abnormal tricuspid ... |
ORPHA:199276 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Joint stiffness, Splenome... |
ORPHA:579 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... |
OMIM:620232 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Bicuspid aortic valve, Down-sloping shoulders, Dental crowding, Cleft upper lip, High... |
OMIM:309800 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Supernumerary nipple, Conical tooth, Micrognathia, Cryptorchi... |
OMIM:263750 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormality of the pineal gland, Abnormal dental morpholog... |
ORPHA:369950 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteopenia, Decreased circulating IgG ... |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Death in infancy, Increased circulating very long-chain fatty acid concentr... |
OMIM:614862 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Vesicoureteral reflux, Enlarged ovaries, Hypospadias, S... |
ORPHA:2745 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Dense calvaria, Joint stiffness |
OMIM:252900 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine... |
ORPHA:14 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Pericardial effusion, Hypermagnesemia, Gout, Iron deficiency anemia, Hy... |
ORPHA:358 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Fetal ascites, Micrognathia, Splenomegal... |
OMIM:261515 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Squamous cell carcinoma of the tongue, Abnormality of skin pigmentation, Nail dystr... |
OMIM:613988 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulati... |
ORPHA:470 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... |
OMIM:614294 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Large h... |
ORPHA:3220 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Oligodontia, Hypodontia,... |
ORPHA:447896 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Conical tooth, Splenomegaly, Dry skin, Aplasia of the sweat glands, Hypodontia... |
OMIM:612132 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Thin upper lip vermilion, Tricuspid stenosis, Joint stiffness, Limitation of joint ... |
OMIM:614185 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin conce... |
OMIM:618886 |
Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Joint s... |
OMIM:604173 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Cryptorchidism, Eyelid coloboma, Limbal dermoid, Pelvic kidne... |
OMIM:613001 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Blepharophimosis, Cry... |
OMIM:620005 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Generaliz... |
ORPHA:85436 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Os... |
ORPHA:99742 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:306400 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:201475 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Arachnodactyly, Hypogonadism, Delayed menarche, Adducted thumb |
ORPHA:412057 |
Vici Syndrome |
|
Albinism, Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, N... |
OMIM:242840 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Gingivit... |
ORPHA:477 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Normochromic anemia, Cholelithiasis, Thrombocytopeni... |
OMIM:618775 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... |
OMIM:612541 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Joint laxity, Broad hallux, Supernu... |
ORPHA:353281 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Ectopic kidney, Flexion contracture, Reticulocytopenia, Neutropenia, Complete dupl... |
OMIM:227645 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat... |
OMIM:249000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Dilated card... |
ORPHA:367 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... |
OMIM:227650 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepa... |
OMIM:616589 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Telecanthus, Abnormal fingernail morphology, Pal... |
ORPHA:2036 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... |
ORPHA:158048 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Avascular necrosis of the capital f... |
ORPHA:247691 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
3Mc Syndrome |
|
Telecanthus, Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Postnatal gro... |
ORPHA:293843 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets, Death in adolescence, Death in childhood, Failure to thrive |
OMIM:560000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Paronychia, Renal cyst, Ureterocele, Abnorma... |
ORPHA:79404 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Melanocytic nevus, Growth delay, Adenoma sebaceum, Irregular hyperpigmenta... |
ORPHA:2612 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... |
ORPHA:781 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat... |
OMIM:617913 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Microretrognathia, Splenomegaly, Jaundice, Cleft lip... |
OMIM:251290 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Short philtrum, High palate,... |
ORPHA:798 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, V... |
OMIM:230500 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip dislocation, F... |
ORPHA:456312 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Cleft palate, Granulocytopenia, Bifid uvula |
OMIM:606164 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pericarditis, Acute pancreatitis, ... |
OMIM:619487 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Weight loss, Cardiomegaly |
ORPHA:85447 |
Duplication Of The Pituitary Gland |
|
Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Abno... |
ORPHA:314621 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomy... |
OMIM:266500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Incr... |
OMIM:300291 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Conjugated hyperbilirubinemia, High palate, Atrial septal defect, Intrahepatic bili... |
OMIM:614866 |
Hurler Syndrome |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Camptodactyly of finger, Abnorma... |
ORPHA:93473 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Joint stiffness, Metatarsus adductus, Splenomegaly... |
OMIM:253220 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Failure to thrive, Rhizomelia, Coxa valga, Micrognathia, Pi... |
ORPHA:263508 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Limited mobility of proximal interphalangeal joint, C... |
OMIM:222300 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of s... |
OMIM:227646 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Lacrimal duct stenosis, Palpebral edema, Unilateral renal agenesis, Dermatochalasis, ... |
ORPHA:221139 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ... |
ORPHA:2273 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Narrow ... |
OMIM:224410 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Oral ulcer, Cheilitis, Lymphade... |
ORPHA:536 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... |
OMIM:615688 |
Graft Versus Host Disease |
|
Dupuytren contracture, Limited elbow movement, Jaundice, Stiff interphalangeal joints, Limited sh... |
ORPHA:39812 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbumine... |
ORPHA:171 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Micrognathia, Folate-unresponsive megaloblastic anemia, Megalobl... |
ORPHA:2575 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Paten... |
OMIM:618652 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Abnormal finger morphology, N... |
ORPHA:79500 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Joint hypermobility, Highly arched eyebrow, Cleft uppe... |
OMIM:265050 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M... |
OMIM:613610 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Avascular necrosis of the capital femoral ... |
ORPHA:581 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Sparse hair, Clinodactyly of the 5th finger, Bifid uvula, Finger syndactyl... |
OMIM:181270 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Narrow ... |
ORPHA:77301 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Everted lower lip ver... |
OMIM:252930 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Juvenile Dermatomyositis |
|
Alopecia, Palpebral edema, Erythema, Limitation of joint mobility, Skin ulcer, Weight loss, Arthr... |
ORPHA:93672 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, Overlapping fingers, T lymphocytopenia, B lymphocytopenia, Recurrent ap... |
OMIM:615966 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3386 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Joint stiffness, Micrognathia, Splenomegaly, Contracture o... |
OMIM:607015 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Short stature, Mastocytosis, Camptodactyly of finger, Micrognathia... |
ORPHA:2135 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Microvesicu... |
OMIM:613070 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... |
ORPHA:91138 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria... |
ORPHA:615 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypopigmentat... |
ORPHA:797 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth |
ORPHA:839 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hepatomegaly, Joint stiffness, Splenomegaly, Broad thumb, Smooth philtrum |
ORPHA:585 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogeusia, Decreased serum zinc, Failure t... |
OMIM:201100 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,... |
OMIM:607361 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Scarring alopecia of scalp, Erythroid hyperplasia, L... |
ORPHA:95159 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... |
ORPHA:353277 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Eyelid coloboma, Abnormality of bone mineral density, V... |
ORPHA:138 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Micrognathia, Reticulocytopenia, Cleft palate, Ster... |
OMIM:613309 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Tented upper lip vermilion, Left ventricular noncompaction cardio... |
OMIM:619424 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Pes planus, Malar flattening, Tapered finger, Cleft lip, Hip dislocation, Obesity, ... |
OMIM:301066 |
Specc1L-Related Hypertelorism Syndrome |
|
Ptosis, Finger syndactyly, Brachydactyly, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, ... |
ORPHA:1519 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Congenital contracture, Abnormal dental morphology, Cryptorchidis... |
ORPHA:191 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Clinodacty... |
ORPHA:363611 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Urinary incontinence |
OMIM:600142 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Nail dystrophy, Bone marrow hypocellularity, Intrauteri... |
OMIM:615190 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown discoloration of the teeth... |
OMIM:104570 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Craniosynostosis, Limited wrist movement, Sple... |
ORPHA:576 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Hypop... |
ORPHA:96334 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S... |
OMIM:614188 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint stiffness, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Lymphadenop... |
ORPHA:85408 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a... |
OMIM:253270 |
Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Flexion... |
OMIM:601803 |
Leprosy |
|
Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the spleen, Testicular mass, P... |
ORPHA:548 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Hepatomegaly, Tented upper lip vermilion, Tapered toe, Shoulder flexion contract... |
OMIM:620369 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Ascites |
ORPHA:36412 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Conjug... |
OMIM:614887 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Abnormal hip... |
ORPHA:584 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Single transverse palmar crease, Low anterior hairline,... |
ORPHA:1449 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... |
OMIM:300967 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Atrial septal defect, Hep... |
ORPHA:373 |
Lathosterolosis |
|
Hepatomegaly, Failure to thrive, Toe syndactyly, Talipes, Micrognathia, Intrahepatic cholestasis,... |
ORPHA:46059 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Micromelia, Deep philtrum, Uraciluria, Deep palmar crease,... |
ORPHA:1675 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scaling skin, Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebr... |
OMIM:308205 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Hepatomegaly, Limited elbow movement, Limited wrist movement, Short foot, T... |
OMIM:617809 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal e... |
OMIM:277900 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Obesity, Abnormality of ski... |
ORPHA:2180 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Scheie Syndrome |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Everted lo... |
ORPHA:93474 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Cardiomegaly, Abnormality of the gallbladder, Failure... |
ORPHA:349 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation,... |
ORPHA:220402 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... |
OMIM:268130 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Alg9-Cdg |
|
Micrognathia, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left ventricul... |
ORPHA:79328 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia, Decreased response to growth hormone stimulation test, Recurrent... |
OMIM:615577 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... |
ORPHA:85450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ora... |
OMIM:619381 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Juvenile myelom... |
OMIM:163950 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Biotinidase Deficiency |
|
Splenomegaly, Alopecia, Organic aciduria, Conjunctivitis |
OMIM:253260 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Failure to thrive |
OMIM:210210 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy |
ORPHA:142 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... |
ORPHA:404454 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Abnormalit... |
ORPHA:744 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Micrognathia, Cleft lip, Limitation of joint mobility, Bilateral wrist flexion cont... |
ORPHA:97297 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... |
OMIM:139210 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Gm1 Gangliosidosis Type 1 |
|
Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, Flared ili... |
ORPHA:79255 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Dermatitis Herpetiformis |
|
Recurrent fractures, Microcytic anemia |
ORPHA:1656 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin co... |
OMIM:222700 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype... |
ORPHA:79277 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Flexion contracture, Osteoporo... |
ORPHA:333 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Hip dysplasia, Impaired T cell function, Anemia |
ORPHA:30 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in childhood |
OMIM:268800 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Dental crowding, Abnormality of the dentition, Tapered finger, Horseshoe kidney, Oro... |
ORPHA:65286 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... |
ORPHA:99845 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Chronic Graft Versus Host Disease |
|
Alopecia, Pancytopenia, Phimosis, Urinary bladder inflammation, Erythema, Flexion contracture, Sk... |
ORPHA:99921 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Po... |
OMIM:610199 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... |
ORPHA:97280 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Perica... |
OMIM:181000 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Deep philtrum, Progressiv... |
OMIM:251260 |
Syndromic Diarrhea |
|
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, H... |
ORPHA:84064 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... |
OMIM:134780 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertyros... |
OMIM:276700 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Micropenis, Bi... |
ORPHA:672 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Increased femora... |
OMIM:619005 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Equinovarus defo... |
ORPHA:466722 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Osteoporosis |
OMIM:601979 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Atrial ... |
OMIM:619573 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Flexion contracture, Gingivitis, Abnormality of skin pigmentation, Periodonti... |
ORPHA:2908 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid mor... |
ORPHA:2396 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Small for gestatio... |
ORPHA:268261 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... |
ORPHA:53715 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Rheumat... |
OMIM:607944 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Atrial septal def... |
ORPHA:2044 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallop... |
OMIM:241080 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Splenomegaly, Trismus, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Leukocytosis, E... |
ORPHA:340 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Lacrimal duct atresia, Hyperpigmen... |
OMIM:300952 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis... |
OMIM:616028 |
Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytop... |
OMIM:301054 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Micrognathia, Abnormal eyelid morphology, Epispadias, Abnormality of skin pigmentation, Abnormal ... |
ORPHA:2556 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Ankle swelling, Leukocytos... |
ORPHA:3260 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic steatosis, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Thin upp... |
OMIM:616263 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Chronic hepatitis, Lym... |
ORPHA:289390 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Oligoarthritis |
OMIM:142680 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Per... |
ORPHA:228123 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum... |
OMIM:616268 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Jaundice, Dilat... |
ORPHA:79282 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Knee osteoarthri... |
ORPHA:2035 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Short philtrum, Hypocalcemia, A... |
ORPHA:567 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... |
ORPHA:439 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Preaxial h... |
OMIM:263520 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia |
OMIM:255125 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Melanocytic nevus, Unilateral renal hypoplasia, Patchy alopec... |
ORPHA:2874 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Pes cavus |
ORPHA:98673 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, ... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:365 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, A... |
ORPHA:261537 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... |
ORPHA:363618 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Limited... |
ORPHA:268 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Micrognathia, Cardiomegaly, Gingival overg... |
ORPHA:96191 |
Behcet Syndrome |
|
Genital ulcers, Epididymitis, Erythema, Oral ulcer, Arthritis, Patchy alopecia, Decreased level o... |
OMIM:109650 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Hip dislocation, Podagra, Megaloblastic anemia |
OMIM:300322 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocysti... |
OMIM:277400 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Pes planus, Abnormal morphology of ulna, Joint stiffness, Ab... |
ORPHA:93 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits, Sparse hair... |
OMIM:268300 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Recurrent fractures, Dental crowding... |
ORPHA:394 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... |
OMIM:619479 |
Noonan Syndrome |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Abnormality of the spleen, Abnor... |
ORPHA:648 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Mic... |
OMIM:615948 |
Relapsing Polychondritis |
|
Renal insufficiency, Alopecia, Proteinuria, Erythema, Limitation of joint mobility, Hematuria, Ar... |
ORPHA:728 |
Inhalational Anthrax |
|
Abnormal sweat gland morphology |
ORPHA:247257 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, A... |
ORPHA:2152 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Failure to thrive, Adducted thumb |
ORPHA:79351 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid con... |
ORPHA:77293 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Ab... |
ORPHA:217085 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Ventricular septal defect, Accessory or... |
ORPHA:434179 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, A... |
ORPHA:261552 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia |
ORPHA:139411 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Hip co... |
OMIM:606170 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Ab... |
ORPHA:217093 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Viss Syndrome |
|
Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul... |
OMIM:619472 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblas... |
OMIM:312870 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Ankylosis, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hepa... |
OMIM:200995 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... |
ORPHA:95409 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Arthritis |
ORPHA:32960 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Hepatomegaly, Aplastic clavicle, Abnorma... |
ORPHA:2538 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia |
ORPHA:90024 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Hypopig... |
ORPHA:821 |
Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Erythema, Poliosis |
ORPHA:79098 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia... |
ORPHA:423 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... |
ORPHA:2041 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Man... |
OMIM:269700 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Redu... |
OMIM:105600 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Biotinidase Deficiency |
|
Alopecia, Organic aciduria, Conjunctivitis |
ORPHA:79241 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lymphadenopathy, Arthritis, Ascites, Pancrea... |
ORPHA:342 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Talipes equinovaru... |
OMIM:100300 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Cardiomyopathy |
OMIM:530000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Epicanthus, Short stature, Vaginal neoplasm, Micrognathia, Osteolys... |
ORPHA:1052 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement |
OMIM:620233 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Micrognathia, Flexion contracture, Knee flexion contracture, Abnormali... |
OMIM:300868 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Intra-oral hyperpigmentation, Fine hair, Urinary urgency, ... |
ORPHA:139399 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... |
ORPHA:449563 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Stiff neck, Parotitis, Orchitis, Sp... |
ORPHA:99827 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Man... |
OMIM:608594 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Downturned corners of mouth, Hepatic fibrosis, Hypocalcemia, Death... |
OMIM:243800 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis |
OMIM:612918 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Single transverse palmar crease, High, narrow palate, Synophrys, Abnormality of sk... |
OMIM:619475 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Hypospadias, Short stature, Supernumerary nipple, Crypt... |
OMIM:235730 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardio... |
ORPHA:116 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pes planus, Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, High, narrow palate, Retrognathia |
ORPHA:91387 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Right ventricular cardiomyopathy... |
ORPHA:75565 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal... |
ORPHA:449395 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Car... |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Neonatal alloimmune thrombocytopenia,... |
ORPHA:51 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Thrombocytop... |
ORPHA:391487 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decr... |
ORPHA:273 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Obesity |
ORPHA:91355 |
Cystic Fibrosis |
|
Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrhosi... |
OMIM:219700 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Chikungunya |
|
Joint stiffness, Periostitis, Cervical lymphadenopathy, Osteolysis, Synovitis, Enthesitis, Lympha... |
ORPHA:324625 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vertebrae, Cleft upper l... |
ORPHA:50 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, Leuk... |
ORPHA:99826 |
Digeorge Syndrome |
|
Impaired T cell function, Micrognathia, High, narrow palate, Abnormal thymus morphology, Hypoplas... |
OMIM:188400 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Osteomyelitis, Abscess, Chronic kidney disease, Alveolar ridge overgrowth, Growth delay, Aplasia ... |
ORPHA:642 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Partial anomalous pul... |
ORPHA:95430 |
Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Abnormality of sk... |
ORPHA:56 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Arthritis, Decreased circulating Ig... |
ORPHA:420741 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, T lymphocytopenia, Lymph node hypoplasia, Conjunctivitis, B lymphocytopenia, Recurr... |
OMIM:300755 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Conical tooth, Hepatosplenomegaly, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Supernumerary tooth, Odontoma |
ORPHA:247806 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Hyperur... |
OMIM:232240 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Failure to thrive |
ORPHA:137675 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
African Trypanosomiasis |
|
Renal insufficiency, Alopecia, Urinary incontinence, Splenomegaly, Weight loss, Abnormal prolacti... |
ORPHA:3385 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Blau Syndrome |
|
Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Synovitis, Lymphadenopathy, ... |
ORPHA:90340 |
Tooth Agenesis, Selective, 4 |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr... |
OMIM:150400 |
Kawasaki Disease |
|
Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Arthritis, Cholecystitis |
ORPHA:2331 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, B lymphocytopenia, Rectal abscess, Conjunctivitis, Recurrent sinusitis, Failure to t... |
OMIM:601495 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Ungual fibroma, Retinal hamartoma, Abnormality of the lymphatic system, L... |
ORPHA:538 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Behçet Disease |
|
Orchitis, Splenomegaly, Lymphadenopathy, Arthritis, Pancreatitis |
ORPHA:117 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth |
ORPHA:314647 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia, Hepatoblastoma,... |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, ... |
ORPHA:653 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial ... |
ORPHA:980 |
Leptospirosis |
|
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
Plague |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Arthritis |
ORPHA:707 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |