Gene Summary

Name:
myb-like, SWIRM and MPN domains 1
Synonyms:
C530050H10Rik,  C130067A03Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin concentration Mysm1tm1a(KOMP)Wtsi HOM Early adult 2.13×10-37
abnormal behavior Mysm1tm1a(KOMP)Wtsi HOM   Early adult 1.13×10-20
decreased circulating cholesterol level Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.10×10-07
increased circulating chloride level Mysm1tm1a(KOMP)Wtsi HOM   Early adult 2.94×10-06
increased IgG3 level Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.09×10-05
increased CD4-positive, alpha-beta T cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 6.64×10-14
abnormal body length Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
decreased IgE level Mysm1tm1a(KOMP)Wtsi HOM Early adult 9.07×10-10
abnormal response to new environment Mysm1tm1a(KOMP)Wtsi HOM   Early adult 2.22×10-05
decreased erythrocyte cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 2.84×10-35
curly tail Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
decreased leukocyte cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.31×10-18
abnormal tail morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
abnormal coat/hair pigmentation Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
abnormal rib morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 5.42×10-09
vertebral fusion Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.65×10-05
decreased hemoglobin content Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.22×10-22
increased circulating phosphate level Mysm1tm1a(KOMP)Wtsi HOM Early adult 6.69×10-10
increased IgG2b level Mysm1tm1a(KOMP)Wtsi HOM Early adult 2.91×10-08
abnormal vocalization Mysm1tm1a(KOMP)Wtsi HET   Early adult 8.62×10-05
tremors Mysm1tm1a(KOMP)Wtsi HOM Early adult 4.02×10-17
abnormal coat/ hair morphology Mysm1tm1a(KOMP)Wtsi HOM   Early adult 3.46×10-17
abnormal vertebral arch morphology Mysm1tm1a(KOMP)Wtsi HET Early adult 1.42×10-05
decreased circulating LDL cholesterol level Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.76×10-05
abnormal vertebrae morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 5.48×10-17
abnormal cranium morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.69×10-10
decreased hematocrit Mysm1tm1a(KOMP)Wtsi HOM Early adult 4.38×10-26
decreased circulating HDL cholesterol level Mysm1tm1a(KOMP)Wtsi HOM Early adult 9.90×10-07
decreased body length Mysm1tm1a(KOMP)Wtsi HOM Early adult 2.59×10-29
increased total body fat amount Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.40×10-18
increased lactate dehydrogenase level Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.60×10-11
increased T cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal urination Mysm1tm1a(KOMP)Wtsi HOM   Early adult 2.68×10-05
decreased mature B cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 0.00
decreased circulating serum albumin level Mysm1tm1a(KOMP)Wtsi HOM Early adult 5.78×10-07
decreased lean body mass Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.32×10-11
increased thermal nociceptive threshold Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.56×10-15
decreased locomotor activity Mysm1tm1a(KOMP)Wtsi HOM   Early adult 3.35×10-09
abnormal gait Mysm1tm1a(KOMP)Wtsi HOM   Early adult 4.02×10-17
decreased sacral vertebrae number Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.47×10-07
increased hemoglobin content Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.14×10-07
narrow eye opening Mysm1tm1a(KOMP)Wtsi HOM Early adult 4.20×10-05
increased lean body mass Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.43×10-07
abnormal gait Mysm1tm1a(KOMP)Wtsi HET   Early adult 1.95×10-05
thrombocytosis Mysm1tm1a(KOMP)Wtsi HOM Early adult 0.00
increased bone mineral content Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.80×10-10
hyperactivity Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.03×10-06
increased granulocyte number Mysm1tm1a(KOMP)Wtsi HOM Early adult 5.43×10-22
decreased circulating triglyceride level Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.88×10-08
kinked tail Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
increased mean corpuscular volume Mysm1tm1a(KOMP)Wtsi HET Early adult 9.00×10-06
abnormal bone mineralization Mysm1tm1a(KOMP)Wtsi HOM Early adult 9.35×10-07
decreased B cell number Mysm1tm1a(KOMP)Wtsi HOM Early adult 0.00
trunk curl Mysm1tm1a(KOMP)Wtsi HOM Early adult 9.45×10-08
abnormal autopod morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.48×10-05
abnormal startle reflex Mysm1tm1a(KOMP)Wtsi HOM   Early adult 4.75×10-06
decreased caudal vertebrae number Mysm1tm1a(KOMP)Wtsi HOM   Early adult 2.77×10-06
increased circulating alkaline phosphatase level Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.02×10-26
decreased circulating triglyceride level Mysm1tm1a(KOMP)Wtsi HET Early adult 9.68×10-08
increased mean corpuscular volume Mysm1tm1a(KOMP)Wtsi HOM Early adult 0.00
decreased body weight Mysm1tm1a(KOMP)Wtsi HOM Early adult 2.94×10-44
abnormal pelvic girdle bone morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.23×10-10
increased circulating alanine transaminase level Mysm1tm1a(KOMP)Wtsi HOM Early adult 1.36×10-07
abnormal retina pigmentation Mysm1tm1a(KOMP)Wtsi HOM   Early adult 8.19×10-05
Mysm1tm1a(KOMP)Wtsi HOM Early adult 3.46×10-17
decreased circulating amylase level Mysm1tm1a(KOMP)Wtsi HOM Early adult 4.12×10-06
decreased circulating total protein level Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.50×10-06
abnormal hindlimb morphology Mysm1tm1a(KOMP)Wtsi HOM Early adult 8.48×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

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Human diseases caused by Mysm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mysm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax morphology, Reticulocytopenia,... ORPHA:508542
Bone Marrow Failure Syndrome 4
Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity... OMIM:618116

The table below shows human diseases predicted to be associated to Mysm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency 27A
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight ... OMIM:209950
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Ptosis, Hypersplenism, Splenomegaly, Bone pain, Anemia, Myoclonus, Hypocholesterolemi... OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Decreased circulating antibody level, Chorioretinal coloboma, Clinodactyl... ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Reduced natural killer cell activity, S... OMIM:603553
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Pectus c... OMIM:617303
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 43
Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Decreased specific antibo... OMIM:241600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Lymphangiectasia, Intestinal
Lymphopenia, Abnormal hair morphology, Decreased circulating IgG level, Prominent floating ribs, ... OMIM:152800
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Osteop... ORPHA:2169
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgG level, Weight loss, Decreased circulating antibody lev... ORPHA:90362
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hypocholesterole... OMIM:212065
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Lethargy,... ORPHA:247585
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Alg12-Cdg
Proximal placement of thumb, Hypoalbuminemia, Hypocholesterolemia, Clinodactyly of the 5th finger... ORPHA:79324
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Reduced bone mineral density, Retinal dysplasia, Her... OMIM:617052
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... OMIM:604416
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, M... OMIM:208920
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n... OMIM:616050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Decreased circulating antibody level, Iron deficiency anemia, Clubbing of fingers, Hypo... OMIM:226300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hypoalbuminemia... ORPHA:505248
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... ORPHA:507
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Failure to thrive, Elevated circulating C-reactive protein concent... OMIM:615934
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem... OMIM:160120
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Nail dystrophy, S... OMIM:615895
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Iron deficie... OMIM:212750
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Retinal degeneration, Barrel-shaped chest, Increased bone mineral density, Ankylosis,... OMIM:239000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno... OMIM:226990
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Sco... OMIM:619013
Alg6-Cdg
Ataxia, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Shortening of all distal pha... ORPHA:79320
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Delay... ORPHA:2315
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hematuria,... OMIM:617021
Pseudohypoparathyroidism Type 1A
Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo... ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... OMIM:618048
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... ORPHA:79397
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... OMIM:235900
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoa... ORPHA:14
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatem... OMIM:103580
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o... ORPHA:75564
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Hypocal... ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Acrodysostosis 1 With Or Without Hormone Resistance
Accelerated skeletal maturation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic ver... OMIM:101800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... ORPHA:3319
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatemia, Hypocal... OMIM:612462
Aicardi-Goutieres Syndrome 9
Hypertonia, Hypoalbuminemia, Micropenis, Self-mutilation, Hemolytic anemia, Osteoporosis, Chorior... OMIM:619487
Poems Syndrome
Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis... ORPHA:2905
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Stage 5 chronic kidney di... OMIM:617575
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... ORPHA:89838
Trichohepatoenteric Syndrome 1
Brittle hair, Hypoalbuminemia, Sparse hair, Hypospadias, Increased mean platelet volume, Decrease... OMIM:222470
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equin... OMIM:608104
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Short neck, Splenomegaly, Postaxial hand polydactyly, Downslanted palpebral fiss... OMIM:235255
Dengue Fever
Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Pseudohypoparathyroidism Type 1C
Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha... ORPHA:79444
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circul... OMIM:614034
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... ORPHA:96180
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r... ORPHA:158061
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Confusion, Depression, Irritability, Hyp... ORPHA:36913
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... ORPHA:79445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... OMIM:606612
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Dela... ORPHA:3268
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormality of tumor nec... ORPHA:540
Galloway-Mowat Syndrome 6
Epicanthus, Proteinuria, Delayed skeletal maturation, Nephrotic syndrome, Focal segmental glomeru... OMIM:618347
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Multiple joint contractures, Elevated circulating creatine kinase... ORPHA:370968
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Congenital Disorder Of Glycosylation, Type Ij
Single transverse palmar crease, Aggressive behavior, Tremor, Flexion contracture, Hypertonia, Cl... OMIM:608093
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Short neck, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Downsl... ORPHA:1655
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... ORPHA:1304
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Low anterior hairline, Reticulocytopenia, Leukopenia, Triphala... ORPHA:124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... ORPHA:94089
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal thumb... OMIM:105650
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Bone pain, Abnormal form of the vertebral bodies, Hypocalcemia, Genu varum, Al... ORPHA:93160
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, L... ORPHA:157850
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Increased circulating Ig... ORPHA:206594
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Proximal placement of thumb, Abnormal hair pattern... ORPHA:261250
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Hemorrhagic Fever-Renal Syndrome
Back pain, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial ne... ORPHA:340
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Delayed skeletal mat... OMIM:614857
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Nail pits, Reticular hyperpigmentat... OMIM:127550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased c... ORPHA:98813
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Macrocytic anemia, Short thumb, Osteoporosis, Horseshoe ki... OMIM:612562
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Hyperammonemia,... ORPHA:1667
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Wei... ORPHA:2070
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... ORPHA:54370
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc... OMIM:611590
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... OMIM:615688
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Delayed skeletal maturation, Pigmentary retinopathy,... ORPHA:3363
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... OMIM:612561
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... OMIM:127000
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac... OMIM:277410
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed... OMIM:241530
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Gait ataxia, Focal dystoni... ORPHA:309169
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... ORPHA:48818
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperuricemia,... ORPHA:134
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Microcytic anemia, Hyp... OMIM:600462
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Anorexia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, Leuk... ORPHA:20
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Thoracolumbar kyphosis, Increased intervertebral space, Opisthotonus, T l... ORPHA:508533
Squalene Synthase Deficiency
Epicanthus, Failure to thrive in infancy, Hypospadias, Optic nerve hypoplasia, Increased circulat... OMIM:618156
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty... OMIM:615048
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Aminoacid... OMIM:277900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:600081
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss... ORPHA:337
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Spasti... ORPHA:1445
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Flexion contracture, Dysphagia, Depression, Anemia, Decr... ORPHA:89842
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Bull's eye maculopathy, Large for gestational age, Short... OMIM:213980
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum... ORPHA:37042
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyro... OMIM:266130
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Iron deficiency anemia, Reduced bone mine... ORPHA:93315
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Brachydactyly, Epicanthus, Down-sloping shoulders, Abnormal ... ORPHA:1390
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... ORPHA:824
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... ORPHA:915
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency, Anemia ORPHA:655
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Postural tremor, Proteinuria, Unsteady gait, Mental deterioration, Gait atax... OMIM:254900
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria... ORPHA:99845
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Spasticity, Elevated circulating creatine kinase concentration OMIM:617613
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Waddling gait, Babinski sign, Pigmentary retinopathy, Hammertoe, Scoliosis, Spasticity OMIM:619090
Dubowitz Syndrome
Aplastic anemia, Single transverse palmar crease, Hypocholesterolemia, Clinodactyly of the 5th fi... OMIM:223370
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... OMIM:603233
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated... ORPHA:228346
Myopathy With Extrapyramidal Signs
Elevated circulating creatine kinase concentration, Clonus, Short neck, Tremor, Chorea, Choreoath... OMIM:615673
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hyperpigmentation of the skin, Scarring, Craniosynostosis, Onychogryposis, Depigmentati... ORPHA:79396
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Inguinal hernia, Increased mea... ORPHA:84064
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-ind... OMIM:607155
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Single transverse palmar crea... ORPHA:2332
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... ORPHA:169154
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Delayed skeletal ma... ORPHA:330015
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr... ORPHA:2298
Sanjad-Sakati Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Delayed skeletal m... ORPHA:2323
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Delayed skeletal maturation, Small hand, Short foot, Hyperphosphatemia, Hy... OMIM:241410
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, ... ORPHA:93325
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ... OMIM:619774
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... ORPHA:485
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Reduced bone mineral densit... ORPHA:2611
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Alg1-Cdg
Renal insufficiency, Kyphosis, Limitation of joint mobility, Nephrotic syndrome, Hypoalbuminemia,... ORPHA:79327
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... ORPHA:292
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... OMIM:615559
Tick-Borne Encephalitis
Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Tremor, L... ORPHA:297
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra... OMIM:167320
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Osteomyelitis, Fasciitis, Elevated circulating creatine kinase concentration... ORPHA:36234
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Clonus, Chorioretinal dysplasia, Oligosacchariduria, Nephrocalcinosis, Aminoacidur... ORPHA:534
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Writer's cramp, Optic atrophy, Hypercalciuria, Reduced ... ORPHA:428
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Liver Disease, Severe Congenital
Dry hair, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentra... OMIM:619991
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Epicanthus, Single transverse palmar crease, Elevated circulating... OMIM:619743
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Thrombocythemia 3
Thrombocytosis OMIM:614521
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T... OMIM:616267
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eosinophilia, Craniosynostosis, Thoracolumbar scoliosis, Increased circulating IgE l... OMIM:618523
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... ORPHA:2522
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac wing, Short palm,... OMIM:235510
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My... OMIM:145600
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Ataxia, Eosinophilia, Ab... OMIM:615816
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seiz... OMIM:146200
Cohen Syndrome
Abnormal eyelid morphology, Low anterior hairline, Abnormality of skin pigmentation, Neutropenia,... ORPHA:193
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbumine... ORPHA:99826
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren... ORPHA:436
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... ORPHA:276435
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen... OMIM:614307
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Thrombocythemia 2
Thrombocytosis OMIM:601977
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Small for gestational age, Single transverse palmar crease,... OMIM:216550
Peroxisome Biogenesis Disorder 3B
Ataxia, Single transverse palmar crease, Retinal dystrophy, Rod-cone dystrophy, Elevated circulat... OMIM:266510
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Hypotrigl... ORPHA:404454
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Proteinu... ORPHA:85443
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Oculopharyngodistal Myopathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Dysph... OMIM:619473
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Anemia, Cognitive impairment, ... ORPHA:858
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Pigmentary retinopathy, Gait disturbance, Cognitive impairment, Rod-cone dystrophy ORPHA:1178
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Hypoalbuminemia, Hypopigmentation of the skin, Ataxia, Hiatus hernia... OMIM:251300
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Ataxia, Tremor, Decreased circulating antibody level, Prem... ORPHA:100
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Koolen-De Vries Syndrome
Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Hyperac... OMIM:610443
Igg4-Related Aortitis
Low back pain, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentr... ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Hyperlordosis, Inability to walk, Flexion con... OMIM:613156
Infantile Sialic Acid Storage Disease
Osteopenia, Epicanthus, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal thorax m... OMIM:269920
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar creases, Limite... OMIM:108145
Vici Syndrome
Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Neut... OMIM:242840
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Tremor, Pectus excavatum,... OMIM:617675
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Ck Syndrome
Long toe, Epicanthus, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, A... ORPHA:251383
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Joint stif... ORPHA:1466
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Isolated Klippel-Feil Syndrome
Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormal rib morphology, Low post... ORPHA:2345
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory... OMIM:615767
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Optic disc pallor, Generalized dystonia, Ataxia, Inability to walk, Retina... OMIM:619389
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Horizontal in... OMIM:102700
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ... OMIM:612852
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Joint hemorrhage, Depression, Hemat... ORPHA:324636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytos... OMIM:618278
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Thick hair, Tremor, Pectus excavatum, Generalized joint laxity, Delayed skelet... ORPHA:502423
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy... ORPHA:466650
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Intention tremor, Ataxia, Hyperlordosis, Clinodactyly of the 2nd finger, Decreased ci... ORPHA:221139
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Epicanthus, Telecanthus, Long palm, Single transverse palmar crease, Congenita... OMIM:244450
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture... OMIM:608799
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin... OMIM:307800
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... ORPHA:529808
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Central heterochromia, Long eyebrows, P... OMIM:275400
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... ORPHA:529799
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen... OMIM:277400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Short... OMIM:618845
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis ORPHA:280062
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular scler... OMIM:619155
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Decreased circulating total IgM, Abnormal e... ORPHA:2643
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Short neck, Low anterior hairline... ORPHA:800
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Delayed skeletal maturation, F... OMIM:609628
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... OMIM:145250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Congenital contracture, Hypertonia, Joint contracture of the 5th finger... ORPHA:352490
Autosomal Recessive Spastic Paraplegia Type 15
Lower limb spasticity, Frontotemporal dementia, Functional abnormality of the bladder, Babinski s... ORPHA:100996
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Koolen-De Vries Syndrome
Overfriendliness, Ureteral duplication, Epicanthus, Hypopigmentation of hair, Arachnodactyly, Hyp... ORPHA:96169
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Increased circulating IgE level,... OMIM:147060
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Cognitive impairment ORPHA:2246
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, ... ORPHA:89937
Cockayne Syndrome Type 1
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Foot joint contracture, Hypermel... ORPHA:90321
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Part... OMIM:616730
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Epicanthus, Camptodactyly of finger, Recurrent fractures, Sh... ORPHA:3409
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Confusion... ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Inguinal her... OMIM:613658
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Abnormality of retinal pigment... ORPHA:474
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... OMIM:258480
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Pigmentar... OMIM:164500
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Splenomegaly, Hyperc... OMIM:239200
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures,... ORPHA:562
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis, Lateral displ... OMIM:242900
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Cystinosis
Renal insufficiency, Proteinuria, Rickets, Abnormal pyramidal sign, Renal tubular dysfunction, Hy... ORPHA:213
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, S... OMIM:250250
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Psychomotor deterioration, Deficit in phonologic short-term memory, Bilateral ptosis, Abnormal py... ORPHA:329336
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Progressive neurologic deterioration, Synophrys, Flexion contractur... ORPHA:581
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th... ORPHA:370010
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Lymphopenia, Increased circulating IgE level, Increased suscepti... OMIM:619752
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... OMIM:615990
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy OMIM:610951
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight lo... ORPHA:100024
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... ORPHA:90363
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Anorexia, Nephrocalcinosis, Unossified vertebral bodies, Increase... OMIM:241500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... OMIM:242150
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retino... ORPHA:71
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar... OMIM:615924
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi... ORPHA:239
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Rod-cone dystrophy, Spasticity, Weigh... ORPHA:216866