Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... |
ORPHA:3319 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossification, Limited hip mov... |
ORPHA:168621 |
Majeed Syndrome |
|
Erythroid hyperplasia, Failure to thrive, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, F... |
OMIM:609628 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume, Radioulnar synostosis |
ORPHA:2760 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Cafe-au-lai... |
OMIM:615234 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
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 |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobi... |
OMIM:612561 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... |
ORPHA:2169 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... |
OMIM:618469 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... |
OMIM:611590 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Hypoplastic f... |
OMIM:113000 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... |
OMIM:613686 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... |
OMIM:178110 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... |
ORPHA:2786 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Abnormal vertebra... |
ORPHA:337 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... |
OMIM:618963 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia, Scol... |
OMIM:612562 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain |
OMIM:122600 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Delayed skeletal matur... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Delayed skeletal matur... |
ORPHA:71526 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Kbg Syndrome |
|
Vertebral fusion, Abnormal hair pattern, Thoracic kyphosis, Thick eyebrow, Delayed skeletal matur... |
ORPHA:2332 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Low posterior hairline, Short neck, Sc... |
OMIM:214300 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Kyphosis, Thromb... |
ORPHA:261250 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hemivertebrae, Low posterior hairline, Abnormal form of the vertebral bodies, A... |
ORPHA:2916 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Bone pa... |
ORPHA:86839 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:606612 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Persist... |
ORPHA:231222 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... |
ORPHA:93315 |
Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis |
OMIM:615583 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Keratoconus Posticus Circumscriptus |
|
Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination |
OMIM:244600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:309620 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck |
ORPHA:2522 |
Aarskog-Scott Syndrome |
|
Abnormal vertebral segmentation and fusion, Inguinal hernia, Abnormality of the cervical spine, G... |
ORPHA:915 |
Gorlin Syndrome |
|
Vertebral fusion, Hemivertebrae, Vertebral wedging, Melanocytic nevus, Scoliosis |
ORPHA:377 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Kbg Syndrome |
|
Vertebral fusion, Low anterior hairline, Vertebral arch anomaly, Thoracic kyphosis, Thick eyebrow... |
OMIM:148050 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Osteo... |
ORPHA:231226 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Multiple cafe-au-lait spots |
ORPHA:1445 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, Hyperpigmentati... |
ORPHA:231214 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis |
ORPHA:313892 |
Cartilage-Hair Hypoplasia |
|
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... |
OMIM:250250 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... |
OMIM:618278 |
Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Coarse hair, Wormian bones... |
OMIM:130720 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... |
OMIM:312150 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Low posterior hairlin... |
OMIM:616549 |
Kniest Dysplasia |
|
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... |
ORPHA:485 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Low posterior hairli... |
OMIM:118100 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Spinal canal stenosis, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Enamel... |
OMIM:263540 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... |
ORPHA:848 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Failure to thrive, Freckling, Fused cervical vertebrae, Carpal synostosis, Del... |
OMIM:157800 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:607155 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Abscess, Osteomyelitis, Osteopenia, Neutrophilia, Splenomegaly, Fus... |
OMIM:612852 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Sho... |
ORPHA:98791 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Neutropenia, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hypopigmentatio... |
ORPHA:79477 |
Wildervanck Syndrome |
|
Low posterior hairline, Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Kyphosis, Abnormal... |
ORPHA:96169 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... |
OMIM:135100 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, Hirsutism, Partial fusion of... |
OMIM:305620 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... |
OMIM:209950 |
Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Hypoplasia of the odontoid process, Abnormality of retinal pigmentation, Verte... |
OMIM:272460 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nail dystrophy |
OMIM:609057 |
Majeed Syndrome |
|
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive, Congenital h... |
ORPHA:77297 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Premature graying of hair, Anem... |
ORPHA:3322 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Ankle swelling, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monoc... |
ORPHA:514 |
Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... |
OMIM:203500 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Small for gestational age, Failure to thrive, Kyphosis, Joint hypermobility, Hi... |
OMIM:610443 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density, Bone pain |
ORPHA:37748 |
Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature ... |
ORPHA:100 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Polyarticular arthritis, Monocytosis, Neutrophilia |
OMIM:619281 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Fused cervical vertebrae, Decreased body weight, Short neck, Cafe-au-lait spot |
OMIM:609053 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... |
ORPHA:3109 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Hypoplastic toenails, Hypoplastic thumbnail, Cervical C2/C3 vertebral fusion, Overweight |
ORPHA:370010 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... |
ORPHA:98850 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... |
OMIM:260400 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Spinal canal stenosis, Accelerated skeletal maturation, Obesity, Fair hair, Red hair |
OMIM:614613 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Ocular albinism, Silver-gray hair, Abnormal dense granules, Giant neutro... |
OMIM:214500 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... |
OMIM:265000 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Pannicu... |
OMIM:617099 |
Cinca Syndrome |
|
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Mosaic Trisomy 20 |
|
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Hypopigmented s... |
ORPHA:1724 |
Omenn Syndrome |
|
Leukocytosis, Failure to thrive, Abnormal lymphocyte morphology, Anemia, Alopecia, Splenomegaly, ... |
ORPHA:39041 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Brittle Cornea Syndrome 1 |
|
Red hair, Congenital hip dislocation, Spondylolisthesis, Atypical scarring of skin, Dentinogenesi... |
OMIM:229200 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Red hair |
OMIM:609734 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Omphalocele, Failure to thrive, Abnormal vertebral segmentation and fusion, Sy... |
ORPHA:90652 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Muenke Syndrome |
|
Tarsal synostosis, Hypopigmented skin patches, Carpal synostosis, Coronal craniosynostosis, Hypop... |
ORPHA:53271 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail, Small for gestational age |
ORPHA:621 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Caudal Regression Sequence |
|
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... |
ORPHA:3027 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Scarring, Hypoplastic nipples, Hemivertebrae,... |
OMIM:308300 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Duane Retraction Syndrome |
|
Hypopigmented skin patches, Patchy hypopigmentation of hair, Abnormal vertebral segmentation and ... |
ORPHA:233 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Thoracolumbar scoliosis, Long eyelashes, Inguinal hernia, Nail dysplasia, Hypop... |
OMIM:268310 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Hypertrichosis, Fused cervical vertebrae, Low posterior hairline, Spina bifi... |
OMIM:619227 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Shoulder dislocation, Anterior vertebral fusion, Elbow dislocation, Radioulnar synost... |
OMIM:171480 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Patella... |
ORPHA:3320 |
Myhre Syndrome |
|
Fine hair, Vertebral fusion, Small for gestational age, Platyspondyly, Enlarged vertebral pedicle... |
OMIM:139210 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Failure to thrive in infancy, Knee flexion contracture, Elbow f... |
OMIM:618156 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Anemia, Reduced bone mineral density, Lymphopenia, Inguinal hernia |
ORPHA:935 |
Castleman Disease |
|
Thrombocytopenia, Decreased mean corpuscular volume, Weight loss, Anemia |
ORPHA:160 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Decreased body weight, Inguinal hernia, Back pain |
ORPHA:51890 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Small nail, Vertebral fusion, Congenital diaphragmatic hernia, Congenital hip disloc... |
ORPHA:373 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
Psoriasis 14, Pustular |
|
Leukocytosis, Polyarticular arthritis, Oligoarthritis, Nail dystrophy, Neutrophilia |
OMIM:614204 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Obesity, Short neck, HbH hemog... |
OMIM:141750 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Rheumatoid arthrit... |
ORPHA:99867 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Genu varum, Patellar aplasia, Anemia, Fused cervical vertebrae, Hip dislocation, He... |
OMIM:274000 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Ocular albinism, Iris transillumination defect, Albinism, Melano... |
OMIM:619172 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hypopigmentation of hair |
ORPHA:70472 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Butterfly vertebrae, Abnormality of skin pigmentation, Spars... |
ORPHA:50 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia |
ORPHA:2070 |
Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Kyphosc... |
OMIM:109400 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly, Widow's peak, Inguinal hernia |
OMIM:227330 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Generalized hypopigmentation, Small for gestation... |
ORPHA:84064 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Keloids, Limitation of movement at ankles, Sclerosis... |
ORPHA:1826 |
Wolf-Hirschhorn Syndrome |
|
Highly arched eyebrow, Vertebral fusion, Small for gestational age, Failure to thrive, Abnormal s... |
OMIM:194190 |
Ivic Syndrome |
|
Leukocytosis, Synostosis of carpal bones, Joint stiffness, Thrombocytopenia, Scoliosis, Radioulna... |
ORPHA:2307 |
Aicardi Syndrome |
|
Butterfly vertebrae, Hemivertebrae, Sparse lateral eyebrow, Lipoma, Hiatus hernia, Block vertebra... |
OMIM:304050 |
Robinow Syndrome |
|
Small nail, Hemivertebrae, Small for gestational age, Kyphoscoliosis, Radioulnar dislocation, Nai... |
ORPHA:97360 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic ... |
ORPHA:97214 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Hemivertebrae, Kyphoscoliosis,... |
OMIM:301040 |
Brittle Cornea Syndrome |
|
Corneal scarring, Increased susceptibility to fractures, Osteoporosis, Hernia, Abnormality of hai... |
ORPHA:90354 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Abnormal natural killer cell mo... |
ORPHA:167 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae |
ORPHA:94095 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Failure to thrive, Coarse hair, Fused cervical vertebrae, Cleft vertebral arch... |
ORPHA:83617 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome |
|
Partial albinism, Neutropenia, Ocular albinism, Weight loss, Abnormal dental enamel morphology, L... |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypertrichosis, Generalized joint laxity, Fused cervical vertebrae, Hip dislocation, Cervical hem... |
ORPHA:508498 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Anemia, Iris hypopigmentation, Limitation of joint mobility, Hypopigmentation of... |
ORPHA:2719 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae |
ORPHA:1780 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... |
ORPHA:268882 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, H... |
ORPHA:98794 |
Atelosteogenesis, Type I |
|
Knee dislocation, Coronal cleft vertebrae, Fused cervical vertebrae, Vertebral hypoplasia, Thorac... |
OMIM:108720 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Ir... |
ORPHA:238468 |
Frontometaphyseal Dysplasia 2 |
|
Hirsutism, Hip contracture, Low anterior hairline, Dislocated radial head, Congenital hip disloca... |
OMIM:617137 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Flexion contracture, Joint stiffness |
ORPHA:847 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Osteoporosis, Hypopigmentation of the skin, Kyphosis, Genu valgum, ... |
OMIM:176270 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, D... |
ORPHA:330015 |
Vici Syndrome |
|
Ocular albinism, Failure to thrive, Albinism, Hypopigmentation of the skin, Decreased proportion ... |
OMIM:242840 |
Menkes Disease |
|
Tarsal synostosis, Chondrocalcinosis, Hypopigmentation of hair, Osteoporosis, Wormian bones, Hern... |
ORPHA:565 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Abnormal vertebral morphology, Abnormal fingernail morphology, Cervical C2... |
ORPHA:444077 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Arthrogryposis multiplex congenita, Abnormal eyebrow morphology, Sple... |
ORPHA:163746 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Kyphosis, Osteopenia, Abdominal ob... |
ORPHA:398069 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteopenia, Abdominal obesity, Obe... |
ORPHA:398079 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Degcags Syndrome |
|
Hepatosplenomegaly, Delayed skeletal maturation, Pancytopenia, Low posterior hairline, Abnormal e... |
OMIM:619488 |
Craniofacial Microsomia |
|
Vertebral hypoplasia, Hemivertebrae, Block vertebrae |
OMIM:164210 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Coronal craniosynostosis, Delayed cr... |
OMIM:101200 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... |
ORPHA:98754 |
Pyomyositis |
|
Leukocytosis, Weight loss, Recurrent cutaneous abscess formation |
ORPHA:764 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... |
ORPHA:177904 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... |
ORPHA:177901 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect |
ORPHA:87 |
Prader-Willi-Like Syndrome |
|
Small for gestational age, Failure to thrive, Osteoporosis, Hypopigmentation of the skin, Osteope... |
ORPHA:398073 |
Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Spinal canal stenosis, Accelerated skeletal maturation, Hypoplastic vertebral bodies... |
ORPHA:280651 |
Prader-Willi Syndrome |
|
Failure to thrive, Increased susceptibility to fractures, Osteoporosis, Hypopigmentation of the s... |
ORPHA:739 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Rickets, Retinal pigment epithelial mottling, Hypopigmentation of t... |
OMIM:219800 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Widow's peak, Hypopigmentation of hair, Joint hyperflexibility |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... |
ORPHA:177907 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Abnormal dental enamel mo... |
ORPHA:818 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Failure to thrive in infancy, Abnormal hip joint morp... |
ORPHA:51608 |