Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral... |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Mandibular prognathia, Pancytopenia, Dec... |
OMIM:259710 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... |
ORPHA:2722 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... |
ORPHA:3352 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Eiken Syndrome |
|
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyse... |
OMIM:600002 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Epicanthus, Hypopigmentation of h... |
OMIM:618541 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bon... |
OMIM:607634 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Gingival hyperkeratosis, Epicanthus, Micrognathia, Everted lower lip ver... |
OMIM:225410 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Solitary median maxillary central incisor, Short thumb, Increased groin ... |
OMIM:188150 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Micrognathia, Increased bone mineral density, Hepatosplenomegaly, Hepatomegaly, ... |
OMIM:259720 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Dental malocclusion, Osteomyelitis, Recurrent frac... |
ORPHA:210110 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... |
ORPHA:166119 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Scl... |
ORPHA:564003 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,... |
OMIM:615198 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse scalp hair, Mandibular prognathia, Dermal translucency, Absent eyelashes, Epican... |
OMIM:137940 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Mueller-Weiss Syndrome |
|
Pedal edema, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, S... |
ORPHA:566943 |
Otopalatodigital Syndrome, Type I |
|
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... |
OMIM:311300 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Delayed eruption of teeth, Generalized hirsutism, Thick eyebrow... |
ORPHA:2222 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Death in infancy, Abnormal trabecular bone morphology, D... |
OMIM:612301 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... |
OMIM:277440 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Gingivitis, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia unive... |
ORPHA:1008 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... |
OMIM:264700 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Death in infancy, Micrognathia, Epiphyseal stippling, Hepatomegaly |
OMIM:614882 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... |
OMIM:307800 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hypopigmentation, Delayed e... |
ORPHA:1816 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti... |
OMIM:265900 |
Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
Pilarowski-Bjornsson Syndrome |
|
Downslanted palpebral fissures, Dermal translucency, Broad eyebrow, Long eyelashes, Almond-shaped... |
OMIM:617682 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Fingernail dysplasia, ... |
ORPHA:2251 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Osteope... |
OMIM:619073 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Small for... |
OMIM:275400 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Abnormal bone ossification, Rhizomelia, Micrognathia, Multiple uner... |
ORPHA:2645 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Osteoporosis, Lymphadenopath... |
ORPHA:100024 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger, Alopecia totalis, Abnormality of the nail, Severe short stature, Hy... |
OMIM:302000 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio... |
ORPHA:85188 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hypoplastic labia majora, Sparse eyelashes, Gingival ove... |
OMIM:209885 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... |
ORPHA:79397 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Abnormal fingertip morphology, Dermal translucency, Almond-shaped... |
ORPHA:529965 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs, Iron deficiency anemia, Hypocalcemia... |
ORPHA:89937 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Parc Syndrome |
|
Alopecia, Absent eyelashes, Microretrognathia, Absent eyebrow, Cleft palate |
OMIM:600331 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Hypophosphate... |
OMIM:600081 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... |
OMIM:617294 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Hepatomegaly... |
ORPHA:2204 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short 1st metacarpal, Short middle phalanx of the 5th finger, Hip osteoarthritis, Hip dysplasia, ... |
ORPHA:63442 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Cutis laxa, Dermal translucency, Elbow flexion contracture, Intrauterine gro... |
OMIM:614438 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy, Alopecia |
ORPHA:499 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morpholog... |
ORPHA:53 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Elevated circulating creatinine concentration, Unconjugated hype... |
ORPHA:232 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... |
ORPHA:2228 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus |
OMIM:600121 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Abnormal metaphysis morphology, Large iliac wing, Delayed eruption of teeth, Increa... |
ORPHA:2780 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Advanced ossification of carpal bones, Decreased body weig... |
OMIM:615349 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyp... |
ORPHA:3416 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Anemia, Recurrent fractures, Delayed eruption of teeth, Premature loss ... |
ORPHA:667 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Hypo... |
ORPHA:93160 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedull... |
OMIM:259730 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ... |
ORPHA:2790 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Genu varum, Irregular, rachitic-like met... |
ORPHA:289157 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis, Periodontitis |
OMIM:104130 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Leukocytosis, Hepatomegaly, I... |
ORPHA:37748 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Genu valgum, Eruption failure, Delayed eruption of primary teeth, Mu... |
OMIM:273050 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Alopecia, Anemia, Sparse scalp hair, Hypoplastic toenails, Mandibular prognath... |
ORPHA:2325 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Increased bone mineral density, Microdontia, Taurodontia, Fragile nails, Abn... |
OMIM:190320 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Bifid uvula, Freckling, Smooth philtrum, Coarse hair, Sparse hair, Slow-growing hair,... |
OMIM:617506 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Anemia, Premature graying of hair, Dermal translucency, Sh... |
OMIM:612199 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Ventricular septal... |
OMIM:619322 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Tapered finger, Weight loss, Abnormal testis morphology, S... |
ORPHA:317 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Osteopenia, B... |
OMIM:619718 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
De Barsy Syndrome |
|
Downslanted palpebral fissures, Small, conical teeth, Generalized joint laxity, High palate, Dela... |
ORPHA:2962 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Thin bony cortex, Metaphyseal irregularity, Recurrent... |
OMIM:241530 |
Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Abnormal eyelid morphology, Skin ulcer, Abnormality of the... |
ORPHA:2584 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Synophrys, Gingival overgrowth, Gingival fibromatosis, Hirsutism, Thic... |
ORPHA:2026 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Feta... |
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 |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Mitral valve prolapse, Failure of eruption of permanent teeth, Brachy... |
ORPHA:3238 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Broad foot, Limb undergrowth, Short palm, Pseudoarthrosis, Increased sus... |
OMIM:166250 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... |
ORPHA:89936 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... |
ORPHA:77297 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, High palate, Abnormal foot morphology, Gingival overgrowth, Failure to ... |
OMIM:269920 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone density with cystic changes, Increased bone mineral density, Alopecia of... |
OMIM:136300 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Malar prominence, Hepatocellular carcinoma, Hepatosplenomegaly, ... |
ORPHA:231214 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyl... |
OMIM:203550 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating alanine aminotransferase concentration, Joint laxity, Elevated circulating a... |
OMIM:614727 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Rhizomelia, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th fing... |
ORPHA:1515 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Extramedullary hematopoiesis, Hepatocellular carcinoma, Malar pr... |
ORPHA:231226 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Ventricular septal defect, Short ribs, Small for gestation... |
OMIM:616897 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Hamamy Syndrome |
|
Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hypochromic anemia, R... |
OMIM:611174 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Narrow palate, Crowded maxillary incisors, Hip dysplasia, Micrognathia, ... |
ORPHA:2063 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,... |
ORPHA:1423 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen ... |
ORPHA:398063 |
Nicolaides-Baraitser Syndrome |
|
Abnormal testis morphology, Everted lower lip vermilion, Abnormal hair pattern, Smooth philtrum, ... |
ORPHA:3051 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Premature loss of primary teeth, Abnormality of dental morphology, Fine hair, Abnormal ... |
ORPHA:248 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Patellar dislocation, Micrognathia... |
OMIM:147891 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Desmosterolosis |
|
Retrognathia, Increased bone mineral density, Micrognathia, Bifid uvula, Submucous cleft hard pal... |
ORPHA:35107 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short long bone, Short ribs, Micr... |
OMIM:156400 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Delayed e... |
OMIM:619489 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Wide anterior fontanel, High, narrow p... |
OMIM:230740 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... |
OMIM:619220 |
Immunodeficiency 64 With Lymphoproliferation |
|
Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Autoimmune thromboc... |
OMIM:618534 |
Pycnodysostosis |
|
Increased bone mineral density, Micrognathia, Hepatosplenomegaly, Hypoplastic iliac wing, Increas... |
ORPHA:763 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Aplasia of the 1st metacarpal, Unilateral radial aplasia, Tapered finger, Eru... |
ORPHA:476126 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... |
OMIM:184260 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Palmoplantar h... |
OMIM:129500 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, High palate, Micrognathia, Sideroblastic anemia, Erythroid hyperplasia, Join... |
OMIM:600462 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... |
ORPHA:482 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Hyperuricemia, Aplastic clavicle, Recurrent fractures, Man... |
ORPHA:2769 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal sclerosis, Cra... |
OMIM:618476 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Fontaine Progeroid Syndrome |
|
Synophrys, Microdontia, Micrognathia, Hypoplastic labia majora, Everted lower lip vermilion, Smoo... |
OMIM:612289 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Ulnar deviation of the 3rd finger, Absent thum... |
OMIM:194350 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Jaundice, Failure to thrive, Carious teeth, Osteopenia, Hepato... |
OMIM:612714 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Poliosis, Tongue atrophy, Blepha... |
OMIM:141300 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Cafe-au-lait spot, Hypogonadism, Delayed eruption of teeth, Small for gestational age, Micrognath... |
ORPHA:73272 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal nasolacrimal system morphology, Increased bone mineral density, Bifid uvula, Hypoplastic... |
ORPHA:2658 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T... |
ORPHA:2751 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Elevated circulating... |
OMIM:614876 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Pedal edema, Pericardial effusion, Increased bone mineral density,... |
ORPHA:77259 |
Osteopetrosis With Renal Tubular Acidosis |
|
Prominence of the zygomatic bone, Micrognathia, Elevated circulating creatine kinase concentratio... |
ORPHA:2785 |
Brachydactyly, Type E1 |
|
Short metacarpal, Multiple impacted teeth, Brachydactyly, Short clavicles, Short metatarsal, Type... |
OMIM:113300 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys... |
OMIM:601705 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteoscleros... |
OMIM:122860 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Delayed eruption of teeth, Short stature, Hypoplasia of penis, Abnormality of the n... |
ORPHA:181393 |
Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Decreased body weight, Short stature, Absent eyelashes, Failure to thri... |
ORPHA:2985 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Alopecia, Hypoplastic toenails, Sparse scalp hair, Small nail, Pili torti, Enamel ... |
OMIM:613573 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... |
OMIM:602080 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Abnormal zygomatic bone morphology, F... |
ORPHA:249 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Rhizomelia, Decreased circulating antibody level, Small for ge... |
OMIM:607143 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... |
ORPHA:2133 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Broad femoral neck, Dental malocclusion, Tapere... |
OMIM:612350 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Hypophosphatemia, Abnormality of the lower limb, Rickets, Hypophosphatemic rickets,... |
OMIM:193100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... |
OMIM:615285 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Hypophosphatemia, Talipes, Genu recurvatum, Reduced bone minera... |
ORPHA:2611 |
Raine Syndrome |
|
Increased bone mineral density, Micrognathia, Microdontia, Cleft palate, Gingival overgrowth, Art... |
OMIM:259775 |
Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, High palate, Short stature, Brittle hair, Epicanthus, Failure to thrive, Bilateral sing... |
ORPHA:50812 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... |
OMIM:618363 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short phalanx of finger, Short tibia, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... |
OMIM:268305 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Cleft mandible, Aplasia of the distal phalanx of... |
ORPHA:364577 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... |
OMIM:607271 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... |
ORPHA:628 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Alopecia, Rhizomelia, Short stature, Epicanthus, Epiphyseal stippling, Limitati... |
ORPHA:177 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilag... |
OMIM:215100 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Metaphyseal irregularity, Recurrent fractures, Calcinosis, Hypophosphatemia, Failure to t... |
OMIM:239200 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, High palate, Delayed eruption of teeth, Synophrys, Abnormality of... |
ORPHA:2025 |
Bloom Syndrome |
|
Decreased circulating total IgM, Agenesis of maxillary lateral incisor, Small for gestational age... |
OMIM:210900 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Broad jaw, Craniosynostosis |
ORPHA:178377 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Death in inf... |
ORPHA:166272 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Scarring alopecia ... |
ORPHA:79402 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Limited elbow movement, Short femoral neck, Short long bone,... |
ORPHA:94068 |
Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... |
ORPHA:3019 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Alopecia, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, ... |
OMIM:615559 |
Immunodeficiency 27A |
|
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leu... |
OMIM:209950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Short metacarpal, Delayed e... |
OMIM:103580 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Decreased circulating antibody level, Clubbing of fingers, Clubbing, Hypoproteinemia, Thr... |
OMIM:226300 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Mandibular prognathia, Short stature, Advanc... |
ORPHA:1133 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Ectopic ossification, Short 5th metaca... |
ORPHA:79445 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Subvalvular aortic stenosis, Hip subluxation, De... |
OMIM:182250 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar |
OMIM:604625 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Abnormality of the l... |
ORPHA:1667 |
Renpenning Syndrome |
|
Alopecia, Mandibular prognathia, Epicanthus, Decreased testicular size, Thin eyebrow, Cachexia, C... |
ORPHA:3242 |
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 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Short philtrum, Osteoporosis, Cone-shaped e... |
ORPHA:71267 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... |
ORPHA:2890 |
Hypotrichosis 5 |
|
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... |
OMIM:612841 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly |
ORPHA:100025 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Wide distal femoral metaph... |
OMIM:614856 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Hirsutism, Cleft palate, Thick eyebrow, Small nail, Macroglossia, Ptos... |
OMIM:614607 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Anemia, Ectopic ossification in ligament tissue, Hallux valgus, Clinodactyly of the 5th... |
ORPHA:337 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Melanocytic nevus, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys,... |
ORPHA:1327 |
Hypophosphatemic Bone Disease |
|
Rickets, Hypophosphatemia, Bowing of the legs, Osteomalacia |
OMIM:146350 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Temple-Baraitser Syndrome |
|
Delayed phalangeal epiphyseal ossification, Everted upper lip vermilion, Delayed eruption of teet... |
ORPHA:420561 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Hypoplastic labia maj... |
OMIM:129400 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... |
ORPHA:158061 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... |
OMIM:615631 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Coxa valga, High palate, Long philtrum, Increased bone mineral densit... |
ORPHA:163649 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis, Death in infancy |
OMIM:600329 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypoplastic sweat glands, Sparse eyebrow, Sparse scalp hair, Natal tooth, Short stature, Hypodont... |
OMIM:601345 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Tapere... |
ORPHA:2930 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Delayed eruption of primary teeth, Delayed ossificati... |
OMIM:620099 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Genu varum, Hypocalcemic tetany, Coxa vara, Osteomalacia, Abnormal trabec... |
ORPHA:289176 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, Downslanted palpebral fissures, High palate... |
ORPHA:2863 |
Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Tapered finger, Small hand, Wide mouth, Short philtrum, Supernumerary nipple, ... |
ORPHA:2896 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Short stature, Delayed eruption of teet... |
ORPHA:884 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Reduced bone mineral density, Hypoplastic il... |
ORPHA:93315 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Obtuse angle of mandible, Coxa valga, Short tubular bones o... |
ORPHA:85184 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Ventricular hypertrophy, Cleft upper lip, Retrognathia, Ventricular septal d... |
OMIM:612561 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus, Short stature, Hypodontia, Small pituitary gland, Carious teeth, Hyp... |
OMIM:612079 |
Moynahan Syndrome |
|
Alopecia, Short stature, Hypogonadism, Cachexia, Sparse hair |
ORPHA:2574 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Recurrent aphthous stomatitis, Weight loss, Elevated hepatic transaminase, Sto... |
OMIM:212750 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Intrauterine growth retardation, Failure to thrive, B... |
OMIM:616353 |
Dysosteosclerosis |
|
Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... |
OMIM:224300 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Anemia, Osteomyelitis, Weight loss, Short stature, Arthritis, Skin ulce... |
ORPHA:47 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Absent thumb, Neutropenia, Hypoplasia of the radius, Bicuspid aortic valve, Radioulnar sy... |
OMIM:614900 |
Dysosteosclerosis |
|
Recurrent fractures, Ventricular septal defect, Delayed eruption of teeth, Increased bone mineral... |
ORPHA:1782 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Hypopigmentation of the skin, Mandibular prognathia, Prominent interdigital ... |
OMIM:601957 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Te... |
ORPHA:1662 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Congenital Disorder Of Glycosylation, Type Ii |
|
High palate, Decreased body weight, Joint laxity, Hepatomegaly, Iron deficiency anemia |
OMIM:607906 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of denta... |
ORPHA:1028 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Delayed eruption of ... |
OMIM:612462 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Cleft p... |
OMIM:108720 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Brachydactyly, Short metatarsal, ... |
OMIM:612463 |
Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Increased bone mineral densi... |
OMIM:265800 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... |
OMIM:608106 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... |
ORPHA:42665 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Osteopetrosis |
OMIM:617306 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho... |
ORPHA:202 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ... |
OMIM:214150 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Trisomy 9P |
|
Non-midline cleft lip, Hypoplastic toenails, Downslanted palpebral fissures, Fingernail dysplasia... |
ORPHA:236 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... |
OMIM:613849 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Spondyloepiphyseal Dysplasia Tarda |
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Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Acrofacial Dysostosis, Weyers Type |
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Conical tooth, Toenail dysplasia, Hypoplastic toenails, Small nail, Small hand, Hypodontia, Advan... |
ORPHA:952 |
Zimmermann-Laband Syndrome |
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High palate, Hallux valgus, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromato... |
ORPHA:3473 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Increased susceptibility to fractures, Reduced natural killer cell count, High palate, Decreased ... |
OMIM:619752 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Alopecia-Intellectual Disability Syndrome |
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Sparse body hair, Alopecia, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia of the eye... |
ORPHA:2850 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Alopecia, Flexion contracture, Short stature, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis... |
ORPHA:88630 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Septic arthritis, Osteomyelitis, Death in infancy, Arthritis, Hypochromic microcytic anemia, Fail... |
OMIM:619423 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Retrognathia, Gingival recession, Dermal translucency, Micrognathia, Camptodactyly, Dental crowdi... |
OMIM:618343 |
Trichorhinophalangeal Syndrome, Type I |
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Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... |
OMIM:190350 |
Atelosteogenesis Type Ii |
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Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus adduc... |
ORPHA:56304 |
Dentin Dysplasia, Type I |
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Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Mccune-Albright Syndrome |
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Monostotic fibrous dysplasia, Dental malocclusion, Recurrent fractures, Osteomalacia, Hepatitis, ... |
ORPHA:562 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Naegeli-Franceschetti-Jadassohn Syndrome |
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Palmoplantar hyperkeratosis, Decreased number of sweat glands, Subungual hyperkeratosis, Generali... |
ORPHA:69087 |
Atransferrinemia |
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Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Ectodermal Dysplasia 4, Hair/Nail Type |
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Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Recurrent fractures, Short stature, Dermal translucency, Joint hypermobility, Reduced bone minera... |
OMIM:619115 |
Multiple Epiphyseal Dysplasia Type 1 |
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Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Osteopenia, Hepatomegaly, Hypoch... |
OMIM:610539 |
Endosteal Hyperostosis, Autosomal Dominant |
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Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ... |
OMIM:144750 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Elsahy-Waters Syndrome |
|
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela... |
OMIM:211380 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, High palate, Long philtrum, Wide mouth, Short stature, Long eyelashes, Joint l... |
OMIM:614608 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Alopecia totalis, Progressive cl... |
ORPHA:740 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... |
OMIM:231095 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Leukopenia, Alopecia, Premature graying of hair, Short stature, Urethral stricture, Intrauterine ... |
OMIM:613990 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Cleft palate,... |
ORPHA:1452 |
Frank-Ter Haar Syndrome |
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Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Mitral val... |
ORPHA:137834 |
Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Hyperpigmentation in sun-exposed areas |
OMIM:176100 |
Dysostosis, Stanescu Type |
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Massively thickened long bone cortices, Increased bone mineral density, Macroglossia, Micromelia,... |
ORPHA:1798 |
Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Gigantiform Cementoma, Familial |
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Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Dumbbell-shaped long bone, Rhizomelia, Glossoptosis, Micrognathia, Micromelia, Short femur, Femor... |
ORPHA:440354 |
Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Natal tooth, Coronal craniosynostosis, Micrognathia, Hepatosplenomegaly, ... |
OMIM:614592 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... |
ORPHA:157215 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
Temtamy Preaxial Brachydactyly Syndrome |
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Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
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Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Melanocytic nevus, Short stature... |
ORPHA:1882 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint contracture of the hand, S... |
OMIM:113000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Synophrys, Micrognathia, Palmoplantar hyperkeratosis, Abnormality of the ureter, ... |
ORPHA:3253 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Clef... |
ORPHA:915 |
Hypophosphatemic Rickets |
|
Bowing of the long bones, Osteomalacia, Enthesitis, Abnormal lower limb bone morphology, Hypophos... |
ORPHA:437 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... |
ORPHA:1306 |
Hypomelanosis Of Ito |
|
Alopecia, Epicanthus, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Macular hypopigm... |
OMIM:300337 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Macs Syndrome |
|
Irregular dentition, Decreased body weight, Epicanthus, Micrognathia, Gingival overgrowth, Sparse... |
OMIM:613075 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Downslanted palpebral fissures, Decreased body weight, High palate, Short stature, ... |
OMIM:618342 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs |
ORPHA:882 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Short hume... |
OMIM:239000 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Abnorma... |
ORPHA:1190 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Decreased circulating antibody level, Reduced natural killer cell activity, ... |
OMIM:308240 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, High palate, Abnormality of neutrophils, Hypochromic anemia, Abnormal hip bone mo... |
ORPHA:2720 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, M... |
OMIM:613848 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Tapered finger, Short stature, Decreased testicular size, Congenital abnormal hair patt... |
ORPHA:1867 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... |
OMIM:222600 |
Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Vertebral fusion, Coxa vara, Capitate-hamate fusion, Block vertebrae, Short me... |
OMIM:272460 |
Camurati-Engelmann Disease |
|
Anemia, Genu valgum, Mandibular prognathia, Increased bone mineral density, Cortical thickening o... |
OMIM:131300 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
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Camptodactyly of finger, Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dys... |
OMIM:212360 |
Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el... |
OMIM:271530 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Abnormality of the tarsal bones, Abnormal foot morphology,... |
ORPHA:352540 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decr... |
ORPHA:231222 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... |
ORPHA:2909 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis... |
ORPHA:811 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural ... |
ORPHA:540 |
Filippi Syndrome |
|
Serrated incisors, Ambiguous genitalia, Decreased body weight, Microdontia, Abnormality of dental... |
OMIM:272440 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Cog7-Cdg |
|
Retrognathia, Abnormal finger morphology, Small for gestational age, Micrognathia, Jaundice, Elev... |
ORPHA:79333 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Cutaneous abscess, Joint hypermobility, Increased circulating I... |
OMIM:147060 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune he... |
OMIM:608184 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Delayed eruption of teeth, Clinodactyly, Camptodactyly, Macroglossia,... |
OMIM:616354 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Everted upper lip vermilion, Delayed eruptio... |
ORPHA:181 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Hallux valgus, Micrognathia, Microdontia, Talipes equinovarus, Postn... |
ORPHA:536467 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, High palate, Precocious puberty, Short stature, Small for gestational age,... |
OMIM:262190 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar erythema, Leukonychia, Brittle hair, Nail dysplasia, Hyper... |
OMIM:104100 |
Hall-Riggs Syndrome |
|
Thick hair, Wide mouth, Delayed eruption of teeth, Short stature, Thick vermilion border, Epicant... |
ORPHA:2107 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... |
ORPHA:98848 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Epiphyseal stippling, Pancytopenia, Failure to thrive, Downturned corne... |
ORPHA:251009 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormality of the tongue, Palmoplantar hyperhidrosis, Hypodontia, Skin ulcer, Ankylosi... |
ORPHA:659 |
Achondroplasia |
|
Genu varum, Generalized joint laxity, Short femoral neck, Death in infancy, Short ribs, Radial bo... |
OMIM:100800 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Finger syndactyly, Toe syndact... |
ORPHA:978 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Oral ulcer, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T ce... |
ORPHA:169154 |
Mulibrey Nanism |
|
Dental malocclusion, Enamel hypoplasia, Pericardial constriction, Hypoplastic frontal sinuses, Hy... |
OMIM:253250 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Ecto... |
ORPHA:2485 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Sézary Syndrome |
|
Alopecia, Splenomegaly, Irregular hyperpigmentation, Lymphadenopathy, Dry skin, Ectropion, Palmop... |
ORPHA:3162 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Cornelia De Lange Syndrome 2 |
|
Synophrys, Micrognathia, Hirsutism, Smooth philtrum, Thick eyebrow, Postnatal growth retardation,... |
OMIM:300590 |
Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, High palate, Natal tooth, Absent para... |
OMIM:269300 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Telecanthus, Abnormal dent... |
OMIM:257850 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, High palate, Long philtrum, Wide mouth, Brittle hair, Delayed e... |
ORPHA:50814 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis, Increased circulating ferritin co... |
ORPHA:3240 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Narrow mouth, Aplasia/Hypoplasia ... |
OMIM:612447 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Abnormal heart morphology, Delayed eruption of teeth |
OMIM:600252 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Absent tonsils, Absen... |
ORPHA:277 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Sparse eyebrow, Alopecia, Enamel hypoplasia, Conjunctivitis, Scarring alopecia o... |
OMIM:612843 |
Dyskeratosis Congenita |
|
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Taurodontia, Ski... |
ORPHA:1775 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Short stature, Recurrent fractures, Dermal translucency, Joint hypermobility |
OMIM:619120 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Synophrys, Micrognathia, Hirsutism, Limited elbow extension, Cleft palate, Teleca... |
OMIM:300882 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... |
OMIM:301078 |
Majeed Syndrome |
|
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... |
OMIM:609628 |
Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared iliac wing, Ca... |
OMIM:201000 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Hip dysplasia, Taurodontia, Radi... |
ORPHA:10 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Dilatation of renal calices, Lagophthalm... |
ORPHA:3455 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Downslanted palpebral fissures, Preaxial hand polydactyly, Hypogonadism, Absent eyelash... |
ORPHA:2316 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Clinodactyly of the ... |
OMIM:619736 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Scaling skin, Alopecia of scalp, Freckling, Dry skin, Conjunctival... |
OMIM:618373 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Short stature, Albinism, Pallor, Hypopigmentation of hair, Osteopor... |
ORPHA:2786 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Fibular bowi... |
OMIM:112350 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormality of the nail, Osteolysis, Abnormal to... |
ORPHA:494 |
Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Cutis laxa, Brittle hair, Short stature, Joint laxity, In... |
OMIM:309400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia... |
OMIM:617780 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Increased body mass index, Delayed eruption of teeth, Macroglossia, Congenital hip disloc... |
OMIM:614450 |
Cantu Syndrome |
|
Broad first metatarsal, Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Coxa... |
OMIM:239850 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... |
OMIM:618495 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Sparse eyebrow, Arachnodactyly, Flexion contracture, Sparse scalp hair, Gingivitis, Abnormality o... |
ORPHA:75496 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Lymphoproliferative Syndrome 2 |
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Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophag... |
OMIM:615122 |
Rothmund-Thomson Syndrome Type 2 |
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Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdon... |
ORPHA:221016 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Fragile nails, Oral... |
OMIM:226650 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Multiple joint contractures, T lymphocytopenia, Selective tooth agenesis, Micrognathia, Neoplasm ... |
ORPHA:2959 |
Immunodeficiency 84 |
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Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Camurati-Engelmann Disease |
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Coxa valga, Delayed eruption of teeth, Cachexia, Cortical thickening of long bone diaphyses, Hype... |
ORPHA:1328 |
Otodental Syndrome |
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Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Kenny-Caffey Syndrome, Type 2 |
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Anemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age, Increased bone ... |
OMIM:127000 |
Cranioectodermal Dysplasia 4 |
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Sagittal craniosynostosis, Cutaneous finger syndactyly, Hip dysplasia, Taurodontia, Joint hypermo... |
OMIM:614378 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Small for gestational age, Abnormal femoral head morphology, Microdontia, Hypodontia, Lym... |
ORPHA:1830 |
Cleidocranial Dysplasia 1 |
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Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
Otopalatodigital Syndrome Type 2 |
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Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Increas... |
ORPHA:90652 |
Laron Syndrome |
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Short toe, Delayed eruption of teeth, Micrognathia, Microdontia, Brachydactyly, Truncal obesity, ... |
ORPHA:633 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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