| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Melanocytic nevus, Abnormal hemoglobin, Decreased skull os... |
ORPHA:3319 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Congenital hip dislocation, Delayed skeletal maturation, Limited hip movement, Lower limb pain, L... |
ORPHA:168621 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Majeed Syndrome |
|
Failure to thrive, Delayed skeletal maturation, Microcytic anemia, Osteomyelitis, Hepatosplenomeg... |
OMIM:609628 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... |
OMIM:618849 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Oslam Syndrome |
|
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Delayed skeletal maturation, Tiger tail banding, Slow-growing hair, Bri... |
OMIM:616943 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Failure to thrive, Persistence of hemoglobin F... |
OMIM:612561 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Fail... |
ORPHA:337 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of hair, Lymphope... |
OMIM:127550 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... |
OMIM:617052 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Neutropeni... |
ORPHA:2169 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu... |
OMIM:618469 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair |
OMIM:620367 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hypoplastic fi... |
OMIM:113000 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... |
OMIM:611590 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky... |
ORPHA:2786 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture... |
OMIM:178110 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Low posterior hairline, Cervical C2/C3 vertebral fusion, Sho... |
ORPHA:2345 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Delayed skeletal maturation, Obesity, Childhood-... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Delayed skeletal maturation, Obesity, Childhood-... |
ORPHA:71526 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:122600 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis, Scol... |
OMIM:612562 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Low posterior hairline, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical ve... |
OMIM:214300 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Persistent open anterior fontanelle, Thoracic kyphosis, Thick eyebro... |
ORPHA:2332 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume, Failure to thr... |
ORPHA:811 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Low ... |
ORPHA:2916 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal fingernail m... |
ORPHA:75564 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia... |
ORPHA:261250 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Fai... |
OMIM:105650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:606612 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... |
ORPHA:231222 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... |
OMIM:616959 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cellulitis, Osteopenia, Atypical scarring of skin, Umbilical hernia, Knee dislocation, Atrophic s... |
OMIM:618000 |
| Verheij Syndrome |
|
Small for gestational age, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scol... |
OMIM:615583 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:313892 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, High anterior hairline, Umbilical hernia, Camptodactyly of finger, Inguinal hern... |
ORPHA:915 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231226 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Multiple cafe-au-lait spots, Fused thoracic vertebrae, Thoracic hemivertebrae |
ORPHA:1445 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231214 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:485 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... |
OMIM:613686 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Acetabular dysplasia, Low posterior hairline, Cervical C2/C3 vertebral fusion, Short neck, Thorac... |
OMIM:616549 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... |
OMIM:312150 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Joint swelling, N... |
OMIM:612852 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:607155 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... |
ORPHA:90650 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... |
ORPHA:3322 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Low posterior hairline, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebra... |
OMIM:118100 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... |
ORPHA:848 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... |
OMIM:253290 |
| Wildervanck Syndrome |
|
Low posterior hairline, Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... |
OMIM:272460 |
| Lateral Meningocele Syndrome |
|
Keloids, Coarse hair, Umbilical hernia, Sclerosis of skull base, Inguinal hernia, Biconcave verte... |
OMIM:130720 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Vertebral segmentation defect, Joint hypermobility, ... |
ORPHA:96169 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Short neck, Aplasia/Hypoplasia of the eyebr... |
ORPHA:98791 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Highly arched eyebrow, Supernumerary nipple, Hypertrichosis, Hyperextensibility of the finger joi... |
OMIM:213980 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Hip dislocation, Kyphosis, Fair hair, Failure to thrive, Spondylolisthesis... |
OMIM:610443 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... |
OMIM:305620 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Salmonella osteomyelitis, Thrombocyt... |
OMIM:209950 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
| Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur... |
ORPHA:77297 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail, Small for gestational age |
ORPHA:621 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive c... |
OMIM:135100 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Premature graying of hair, Lymphopenia, Multiple cafe-au-lait spots, Hypopigme... |
ORPHA:100 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Failure to thrive, Premature graying of hair, Pancytopenia, Leukopenia, White fo... |
OMIM:613989 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight... |
ORPHA:514 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Hypoplasia of the odontoid process, Fair hair, Fine hair, Lymphopenia, Lumbar hyp... |
OMIM:250250 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Short neck, Neutropenia, Cafe-au-lait spot, Fused cervical vertebrae |
OMIM:609053 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Hypoplastic thumbnail, Overweight, Hypoplastic toenails, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho... |
OMIM:265000 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Delayed skeletal maturation, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Larsen Syndrome |
|
Spondylolysis, Short nail, Hypoplastic cervical vertebrae, Elbow dislocation, Cervical kyphosis, ... |
OMIM:150250 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... |
OMIM:618278 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Failure to thrive, Fair hair, Premature graying of hair, Pa... |
OMIM:620331 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair |
ORPHA:2221 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Aggressive Systemic Mastocytosis |
|
Pathologic fracture, Bone pain, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, In... |
ORPHA:98850 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Low anterior hairline, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, O... |
OMIM:617796 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Delayed skeletal maturation, Persistence of hemoglobin F, Pancytopenia, Irregu... |
OMIM:260400 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Joint swelling, Increased proportion of CD4-positive ... |
OMIM:617099 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Obesity, Blue irides, Red hair, Advanced ossification of carpal bones, Spinal canal st... |
OMIM:614613 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short neck, Hemivertebrae, Vertebral f... |
OMIM:271520 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Hy... |
ORPHA:1724 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... |
OMIM:214500 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Hypertrichosis, Long eyelashes, Cervical C2/C3 vertebral fusion, Accelerat... |
OMIM:617190 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Atypical scarring of skin, Congenital hip dislocation, Spondylolisthes... |
OMIM:229200 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinoph... |
ORPHA:39041 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Chops Syndrome |
|
Coarse hair, Tracheomalacia, Long eyelashes, Obesity, Thick eyebrow, Splenomegaly, Cervical C2/C3... |
OMIM:616368 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Failure to thrive, Camptodactyly of finger, Carpal... |
ORPHA:90652 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Hyper... |
ORPHA:53271 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Small nail, Delayed cranial suture closure, Thoracic hemivertebrae, Short neck, Thoracolumbar sco... |
OMIM:268310 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Hypertrichosis, Butterfly vertebrae, Low posterior hairline, Spina bifida occulta, Cafe-au-lait s... |
OMIM:619227 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility |
OMIM:617333 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... |
OMIM:151200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patellar dislocation, Scoli... |
ORPHA:3320 |
| Myhre Syndrome |
|
Platyspondyly, Limitation of joint mobility, Fine hair, Obesity, Thick eyebrow, Enlarged vertebra... |
OMIM:139210 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hypopigmentation of hair, Cafe-au-lait... |
OMIM:618541 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Lymphopenia, Inguinal hernia, Anemia, Reduced bone mineral density |
ORPHA:935 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Leukocytosis, Inguinal hernia, Decreased body weight |
ORPHA:51890 |
| Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia |
ORPHA:160 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Thoracic kyphosis, Thick eyebrow, Low anterior hairline, Low posteri... |
OMIM:148050 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa... |
ORPHA:98849 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Umbilical hernia, Overweight, Persistence of hemoglobin F |
OMIM:619769 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Melanocytic nevus, Hemivertebrae, Vertebral fus... |
ORPHA:377 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Abnormal form of ... |
ORPHA:233 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Joint hypermobility, Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F |
OMIM:617101 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Abnormality of hair pigmentation, Failure to thrive in infancy, Knee f... |
OMIM:618156 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Small nail, Polysplenia, Camptodactyly of finger, Umbilical hernia, S... |
ORPHA:373 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
| Psoriasis 14, Pustular |
|
Polyarticular arthritis, Leukocytosis, Nail dystrophy, Oligoarthritis, Neutrophilia |
OMIM:614204 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
| Anal Fistula |
|
Cellulitis, Leukocytosis |
ORPHA:228113 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... |
OMIM:619172 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pu... |
ORPHA:99867 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Aicardi Syndrome |
|
Block vertebrae, Sparse lateral eyebrow, Butterfly vertebrae, Abnormality of retinal pigmentation... |
ORPHA:50 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Keloids, Interphalangeal joint contracture of finger, Camptodactyl... |
ORPHA:1826 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral... |
OMIM:109400 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Highly arched eyebrow, Hip dislocation, Kyphosis, Failure to thrive, Delayed sk... |
OMIM:194190 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Inguinal hernia, Hypoplasia of the... |
ORPHA:84064 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Inguinal hernia, Hyperextensible hand joints, Camptodactyly, Vertebral fusion, Widow's peak |
OMIM:227330 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Ivic Syndrome |
|
Synostosis of carpal bones, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopeni... |
ORPHA:2307 |
| Brittle Cornea Syndrome |
|
Corneal scarring, Increased susceptibility to fractures, Abnormality of hair pigmentation, Joint ... |
ORPHA:90354 |
| Aicardi Syndrome |
|
Block vertebrae, Sparse lateral eyebrow, Butterfly vertebrae, Hiatus hernia, Hemivertebrae, Lipom... |
OMIM:304050 |
| Robinow Syndrome |
|
High anterior hairline, Small nail, Umbilical hernia, Kyphoscoliosis, Nail dysplasia, Hemivertebr... |
ORPHA:97360 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Keloids, Elbow contracture, Thick eyebrow, Hip contracture, Low anter... |
OMIM:617137 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Brain a... |
ORPHA:97214 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Hemoph... |
ORPHA:167 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni... |
OMIM:306955 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Abnormal dental enamel morp... |
ORPHA:79430 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Limitation of movement at ankles, H... |
ORPHA:98794 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Patellar aplasia, Carpal bone hypoplasia, Eo... |
OMIM:274000 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Hypertrichosis, Thoracic kyphosi... |
ORPHA:508498 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Coarse hair, Failure to thrive, Contracture of the distal interphalange... |
ORPHA:83617 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Limitation of joint mobility, Ocular albinism, Inguinal hernia, Anemia, Hy... |
ORPHA:2719 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... |
ORPHA:238468 |
| Lead Poisoning |
|
Delayed skeletal maturation, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia,... |
ORPHA:330015 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Umbilical hernia, Kyphoscoliosis, Hypochromic microcytic anemia, Hemivertebrae, R... |
OMIM:301040 |
| Alkaptonuria |
|
Irregular hyperpigmentation, Joint dislocation, Joint stiffness, Reduced bone mineral density, In... |
ORPHA:56 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... |
ORPHA:268882 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Flat acetabular roof, Fused cervical vertebrae |
OMIM:617159 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Short neck, Congenital diaphragmatic hernia, Hemivertebrae |
ORPHA:1780 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Highly arched eyebrow, Tracheomalacia, Abnormal fingernail morphol... |
ORPHA:444077 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Short neck, Vertebral hypoplasia, Co... |
OMIM:108720 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi... |
OMIM:101200 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Menkes Disease |
|
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Tarsal synostosis,... |
ORPHA:565 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity |
OMIM:609734 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obesity, Osteopor... |
ORPHA:398079 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Increased body weight, Abdominal obe... |
ORPHA:398069 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Joint stiffness, Flexion contracture, Abnormal hemoglobin |
ORPHA:847 |
| Cardiospondylocarpofacial Syndrome |
|
Failure to thrive, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles,... |
OMIM:157800 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Lymphopenia, Leukopenia, Decrea... |
OMIM:242840 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... |
ORPHA:163746 |
| Degcags Syndrome |
|
Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Genu valgum, Low posterior hairline,... |
OMIM:619488 |
| Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... |
ORPHA:98754 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Cervical C5/C6 vertebrae fusion, Inguinal hernia, Hirsutism, Low anterior hairline, Short neck, C... |
OMIM:613458 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... |
ORPHA:177901 |
| Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect |
ORPHA:87 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
| Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Increased susceptibility to fracture... |
ORPHA:739 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Short neck, Hyperpigmentation of th... |
ORPHA:177907 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Rickets, Failure to thrive, Retinal pigment... |
OMIM:219800 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Joint hypermobility, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Congenital di... |
ORPHA:818 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Thick eyebrow, Synophrys |
OMIM:211380 |
| Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morphology, Hypophosphatemic ricke... |
ORPHA:51608 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
| Holt-Oram Syndrome |
|
Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... |
OMIM:142900 |
