Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Melanocytic nevus, Short neck, Scoliosis, Decreased skull ossification, Thrombocytopenia,... |
ORPHA:3319 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Delayed femoral head ossification, Lower limb pain, Limited hip movement, Congenital hip dislocat... |
ORPHA:168621 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Sickle Cell Anemia |
|
Avascular necrosis, Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:232 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Majeed Syndrome |
|
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... |
OMIM:609628 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Radioulnar synostosis, Abnormality of neutrophils |
ORPHA:2760 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, 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 |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Diamond-Blackfan Anemia 6 |
|
Tracheomalacia, Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean... |
OMIM:612561 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Alopecia, Premature graying of hair, Lymphopenia, Nail pits, Ridged nail, Ost... |
OMIM:127550 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
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 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Failure to thrive, Scoliosis, Macrocytic anemia, Increased mean corpuscular volume,... |
ORPHA:2169 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... |
OMIM:611590 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Anemia, Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral mo... |
ORPHA:337 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Cafe-au-lait spot, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Spleno... |
OMIM:615234 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... |
ORPHA:2786 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... |
OMIM:178110 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Osteomyelitis, Abno... |
ORPHA:811 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Lo... |
ORPHA:2345 |
Diamond-Blackfan Anemia 7 |
|
Scoliosis, Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteopo... |
OMIM:612562 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71526 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:122600 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Low posterior hairline, Cervical C2/C3 vertebral... |
OMIM:214300 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Synophrys, Short neck, Delayed skeletal maturation, Abnormal... |
ORPHA:2332 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Small for gestation... |
ORPHA:124 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Abnormal hair pattern, Scoliosis, Increased mean corpuscular volume, Thrombocytopenia, ... |
ORPHA:261250 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Vaginal hernia, Elbow dislocation, Hypoplastic ... |
ORPHA:2916 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Beta-Thalassemia Intermedia |
|
Increased susceptibility to fractures, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosp... |
ORPHA:231222 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
Verheij Syndrome |
|
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... |
OMIM:613673 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Short neck, Abnormal reticulocyte morphology |
ORPHA:2522 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Ventral hernia, Thoracic scoliosis, Generalized joint laxity, Cellulitis, F... |
OMIM:618000 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, High anterior hairline, Abnormality of the cervical spine, Inguinal hern... |
ORPHA:915 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Cafe-au-lait spot, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepa... |
ORPHA:300298 |
Gorlin Syndrome |
|
Vertebral fusion, Melanocytic nevus, Vertebral wedging, Scoliosis, Hemivertebrae |
ORPHA:377 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia Major |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... |
ORPHA:231214 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Multiple cafe-au-lait spots, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis |
ORPHA:313892 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Low posterior hai... |
OMIM:616549 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Kniest Dysplasia |
|
Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae, Vertebral wedging, Hypoplasia o... |
ORPHA:485 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Osteopenia, Joint swelling, Fa... |
OMIM:612852 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck, Low posterior hairline |
ORPHA:3456 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... |
ORPHA:3322 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Low posterior hairline, Cervic... |
OMIM:118100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... |
OMIM:613686 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... |
ORPHA:848 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... |
ORPHA:79477 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Failure to thrive, Short ... |
ORPHA:98791 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Hypopigmentation of h... |
ORPHA:96169 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Biconcave vertebral bodies, Kyphosis, Keloids, Joint hypermobility, Wormian bon... |
OMIM:130720 |
Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Vertebral fusion, Hyperlordosis, C2-C3 subluxation, Capitate-hamate fusion, Bl... |
OMIM:272460 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Partial fusion of t... |
OMIM:305620 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... |
OMIM:209950 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Craniosynostosis, Synop... |
OMIM:213980 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Iris hypopigmentation, Fair... |
OMIM:610443 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... |
ORPHA:77297 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Hypoc... |
ORPHA:514 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossif... |
OMIM:135100 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Fair hair, Narrow vertebral interpedicular distance, Hypoplasia of the od... |
OMIM:250250 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Multiple caf... |
ORPHA:100 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Avascular necrosis, Premature graying of hair, Pancytopenia, Failure to thrive, White... |
OMIM:613989 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:177910 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Decreased body weight, Fused cervical vertebrae, Short neck, Neutropenia |
OMIM:609053 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism |
ORPHA:2221 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Hypoplastic toenails, Overweight, Hypoplastic thumbnail |
ORPHA:370010 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Larsen Syndrome |
|
Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Shor... |
OMIM:150250 |
Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteol... |
ORPHA:98850 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Joint swelling, Panniculitis, Leukocytosis, Failure to thrive in inf... |
OMIM:617099 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Small for gestationa... |
OMIM:260400 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... |
OMIM:214500 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Inguinal hernia, Short neck, Scoliosi... |
OMIM:271520 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Hypopigmented streaks, Kyphosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Advanced ossification of carpal bones, Fair hair, Spinal canal stenosis, Blue irides, Red hair, O... |
OMIM:614613 |
Omenn Syndrome |
|
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Leukocytosis, Eosinophili... |
ORPHA:39041 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Small for gestational age, Synophrys, Overweight, Cervical C2/C3 vertebral fusi... |
OMIM:617796 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Joint laxity, Congenital hip dislocation, Spondylolisthesis, Scoliosis... |
OMIM:229200 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Synophrys, Accelerated skeletal maturation, Long eyela... |
OMIM:617190 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly |
OMIM:612840 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:411515 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Small nail, Thoracolumbar s... |
OMIM:268310 |
Muenke Syndrome |
|
Coronal craniosynostosis, Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair... |
ORPHA:53271 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Curly hair, Synophrys, Long eyelashes, Obesity, Coarse hair, Tra... |
OMIM:616368 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Cafe-au-lait spot, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Low poste... |
OMIM:619227 |
Caudal Regression Syndrome |
|
Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Joint stiffn... |
ORPHA:3027 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph... |
ORPHA:98849 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Osteopetrosis, Splenom... |
OMIM:618541 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Camptodactyl... |
ORPHA:233 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Scoliosis, Thrombocy... |
ORPHA:3320 |
Castleman Disease |
|
Decreased mean corpuscular volume, Weight loss, Thrombocytopenia, Anemia |
ORPHA:160 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Elbow flexion contracture, Abnormality of hair pigmentation, Failure to... |
OMIM:618156 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Coarse hair, Scarring, Bre... |
OMIM:308300 |
Kbg Syndrome |
|
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Synophrys, Short neck, Delayed skele... |
OMIM:148050 |
Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Camptodactyly, Fine hair, Limitation of joint mobili... |
OMIM:139210 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Fine hair, Lymphopenia, Inguinal hernia, White hair, Reduced bone mineral density |
ORPHA:935 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Inguinal hernia, Back pain, Decreased body weight, Leukocytosis |
ORPHA:51890 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F |
OMIM:619769 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Vertebral fusion, Small nail, Vertebral segmentation defect, Polysplenia... |
ORPHA:373 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Anterior concavity of thoracic vertebrae, Joint hypermobility, Persistence of hemoglobin F |
OMIM:617101 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Polyarticular arthritis, Leukocytosis, Nail dystrophy |
OMIM:614204 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hypopigmentation of hair |
ORPHA:70472 |
Thymoma |
|
Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu... |
ORPHA:99867 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... |
OMIM:619172 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Aicardi Syndrome |
|
Multiple lipomas, Abnormality of skin pigmentation, Sparse lateral eyebrow, Block vertebrae, Butt... |
ORPHA:50 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Hip dislocation, Radioulnar... |
OMIM:194190 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Irregular ossifica... |
OMIM:109400 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Widow's peak, Camptodactyly, Inguinal hernia, Hyperextensible hand joints |
OMIM:227330 |
Syndromic Diarrhea |
|
Splenomegaly, Hypoplasia of the thymus, Cafe-au-lait spot, Generalized hypopigmentation, Trichorr... |
ORPHA:84064 |
Ivic Syndrome |
|
Synostosis of carpal bones, Radioulnar synostosis, Joint stiffness, Scoliosis, Leukocytosis, Thro... |
ORPHA:2307 |
Robinow Syndrome |
|
High anterior hairline, Small nail, Radioulnar dislocation, Small for gestational age, Nail dyspl... |
ORPHA:97360 |
Eisenmenger Syndrome |
|
Hypochromic microcytic anemia, Increased mean corpuscular volume, Brain abscess, Iron deficiency ... |
ORPHA:97214 |
Aicardi Syndrome |
|
Sparse lateral eyebrow, Block vertebrae, Butterfly vertebrae, Lipoma, Scoliosis, Hemivertebrae, H... |
OMIM:304050 |
Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Hernia, Abnormality of hair pigmentation, Corneal scarring... |
ORPHA:90354 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypopigmentation of the skin, Neutropenia, Iris hypopigmentation, Large clumps of pigment... |
ORPHA:167 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Keloids, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Dislocated ... |
OMIM:617137 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip disloca... |
OMIM:274000 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Butterfly vertebrae, Vertebral hypoplasia, Hemivertebrae |
OMIM:206900 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Kyphosis, Hypochromic microcytic anemia, HbH hemoglobin, Kyph... |
OMIM:301040 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Limitation of movement at ankles, Iris hypopigmentation, Hypopigmen... |
ORPHA:98794 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Severe failure to thrive |
ORPHA:423479 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Coronal craniosynostosis, Fused cervical vertebrae, Inguinal hernia, Severe B ... |
ORPHA:83617 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Ocular albinism, Iris hypopigmentation, Limitation of joint mobility, Inguinal hernia, Hy... |
ORPHA:2719 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Small for gestational age, Imbalanced hemoglobin synthesis, D... |
ORPHA:330015 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Hypoplastic toenails, Block vertebrae, Absence of the sacrum, Polysplenia, Failure to t... |
OMIM:306955 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... |
ORPHA:508498 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... |
OMIM:108720 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypoplastic toenails, Curly hair, Synophrys, Long eyelashes, Obesity, Abnormal v... |
ORPHA:444077 |
Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:411511 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Abnormal hemoglobin, Joint stiffness |
ORPHA:847 |
Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... |
OMIM:101200 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Menkes Disease |
|
Hernia, Osteomyelitis, Recurrent fractures, Woolly hair, Wormian bones, Inguinal hernia, Hypopigm... |
ORPHA:565 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity |
OMIM:609734 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Osteopenia, Scoliosis,... |
ORPHA:398079 |
Vici Syndrome |
|
Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Ocular albinism, Albinism, Lymphopen... |
OMIM:242840 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Arthrogryposis multiplex congenita, Hypop... |
ORPHA:163746 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Flexion contracture, Kyphosis, Failure to thrive, Hypopigmentation ... |
ORPHA:398069 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Genu valgum, Generalized hypopigmentation, Kyphosis, Frontal upswee... |
OMIM:176270 |
Degcags Syndrome |
|
Premature graying of hair, Synophrys, Hepatosplenomegaly, Delayed skeletal maturation, Abnormal e... |
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 the skin, Hypopigmentation of hair |
ORPHA:98795 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:98754 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Tracheobronchomalacia, Synophrys, Camptodactyly, Hip dislocation, Inguinal hernia,... |
OMIM:613458 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:177901 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Increased susceptibility to fractures, Hypopigmentation of the skin, Failure to thrive, Hypopigme... |
ORPHA:739 |
Acrodysostosis With Multiple Hormone Resistance |
|
Fair hair, Narrow vertebral interpedicular distance, Accelerated skeletal maturation, Spinal cana... |
ORPHA:280651 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Short neck, Stella... |
ORPHA:177907 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Widow's peak, Hypopigmentation of hair, Joint hyperflexibility, Coarse hair |
ORPHA:1974 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Genu valgum, Weight loss, Retinal pigment e... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Hip dislocation, Congenital diaphragmatic hernia, Hypopigmentation of hair, Short neck,... |
ORPHA:818 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
|
Synophrys, Thick eyebrow, Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia |
|
Genu valgum, Vertebral hypoplasia, Block vertebrae, Scoliosis, Hemivertebrae |
OMIM:164210 |