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Gene: Polg MGI:1196389

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
polymerase (DNA directed), gamma
Synonyms:
Polga,  Pol gamma,  polymerase gamma,  mitochondrial DNA polymerase gamma,  mitochondrial DNA polymerase-gamma

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Polg 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 Polg by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ... OMIM:613662
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Decreased m... ORPHA:298
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Hyperthyroidism, Diabetes mellitus, Facial palsy, Hearing impairment, Quadric... ORPHA:254892
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstru... OMIM:607459
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Osteoporosis, Cerebral cortical neurodegeneration, Cerebral atrophy, Bile duc... OMIM:203700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Sensorineural hearing impairment, Ragg... OMIM:258450
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... ORPHA:254886
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal vestibular function, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Atrophy/De... ORPHA:70595
Spinocerebellar Ataxia With Epilepsy
Myopathy, Optic atrophy, EEG with occipital epileptiform discharges ORPHA:254881
Recessive Mitochondrial Ataxia Syndrome
Hashimoto thyroiditis, Dysphagia ORPHA:94125
Alpers-Huttenlocher Syndrome
ORPHA:726

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis ORPHA:408
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... OMIM:275400
Birk-Aharoni Syndrome
Macrocytic anemia, Cryptorchidism, Muscular ventricular septal defect, Micropenis, Failure to thr... OMIM:620071
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Low anterior hairline, Osteop... OMIM:616033
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Osteoporosis, Nail ... OMIM:618625
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis, Hearing impairment OMIM:615269
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils, Endocardia... ORPHA:111
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... OMIM:136300
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Cholelithiasis, Anemia of inadequate production OMIM:224100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Opt... OMIM:600118
Atransferrinemia
Hypochromic anemia OMIM:209300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Failure to thrive, Mic... OMIM:600462
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Low-set ears, Decreased skull ossificati... OMIM:601163
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia ORPHA:2575
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Forsythe-Wakeling Syndrome
Osteoporosis, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia OMIM:613606
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... OMIM:235200
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia ORPHA:309108
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia OMIM:606164
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism OMIM:249270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Winchester Syndrome
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis OMIM:277950
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... ORPHA:2232
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporo... ORPHA:48431
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Sensorineural ... OMIM:222300
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Immunodeficiency 95
Lymphopenia OMIM:619773
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... ORPHA:2786
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... ORPHA:3294
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Pili torti, Abnormal testis... ORPHA:202
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Microcytic anemia OMIM:618852
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Scoliosis, Decreased activity of mitochondrial co... OMIM:618234
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... OMIM:617087
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Nephronophthisis
Anemia ORPHA:655
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis OMIM:300752
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... OMIM:618323
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... ORPHA:352470
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... ORPHA:2410
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Join... ORPHA:465508
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... ORPHA:3000
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Posteriorly rotated ears, Kyphoscoliosis, Osteoporosis, Low-set ears, Failure to th... OMIM:614727
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary ... OMIM:610628
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Inguinal hernia, Osteoporosis ORPHA:2958
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Myotonic Dystrophy 1
Frontal balding, Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Test... OMIM:160900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess OMIM:604416
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Kyp... OMIM:615381
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Kypho... OMIM:214150
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, High palate, Scoliosis, Joint contracture, Lower limb muscle w... OMIM:611225
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Prieto Syndrome
Cryptorchidism, Inguinal hernia, Osteoporosis OMIM:309610
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a... OMIM:618165
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... OMIM:300718
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty, Hearing impairment OMIM:615271
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Kyphosis, Cryptorchidism, Low posterior hairline, Premature ... ORPHA:2617
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Onychauxis, Abnormal hair morphology, Fractures of the long bones, Osteoporosis, Hype... ORPHA:319195
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... OMIM:614880
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Cryptorc... ORPHA:3409
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Low-... OMIM:228600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... ORPHA:1875
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Scoliosis, Spar... ORPHA:2850
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility OMIM:613909
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy OMIM:313200
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Perrault Syndrome 1
Cerebellar atrophy, Increased circulating gonadotropin level, Sensorineural hearing impairment, O... OMIM:233400
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Cryptorchidism, Face... OMIM:618000
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, K... ORPHA:2047
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Testicu... OMIM:613987
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Elbow flexion contracture, Osteo... OMIM:616200
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia ORPHA:98673
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Osteoporosis, Thyroiditis, Rickets, Weight loss, Iron deficiency ane... OMIM:212750
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Cholel... OMIM:615512
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Hypogonadotropic hypogona... OMIM:612079
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, High palate, ... OMIM:255800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... ORPHA:317
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea OMIM:233300
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c... ORPHA:101075
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Pericar... OMIM:239850
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center ORPHA:277
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Cholelithiasis, Thrombocytopenia ORPHA:848
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Dilated cardiomyopathy, Osteoporosis, Abnormality of endocrine pancreas physio... ORPHA:79230
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Synophrys, High palate, Thickened helices, Small earlobe, Hypospadias, Spa... ORPHA:3063
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... OMIM:614856
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:603909
Hamamy Syndrome
Hypoparathyroidism, Atrial septal defect, Osteopenia, Inguinal hernia, Sparse eyelashes, Recurren... OMIM:611174
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Optic atrophy, Osteoporosis ORPHA:2787
Immunodeficiency 44
Lymphopenia OMIM:616636
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hairline, Flexion contrac... OMIM:618658
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Posteriorly rotated ears, Kyphosis, Reduced bone mineral density, Dela... OMIM:618392
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity, Chro... OMIM:616435
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, EEG with burst suppression, Osteoporosis, Gastroesophageal reflux, Atrophy/De... OMIM:619971
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Sialidosis Type 2
Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, Hearing impai... ORPHA:87876
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Facial hypotonia, Short nec... ORPHA:85194
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Incre... ORPHA:902
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Cryptorchidism, Abnormal... ORPHA:1867
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, Long eye... ORPHA:3051
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Barth Syndrome
Failure to thrive, Cyclic neutropenia, Dilated cardiomyopathy, Abnormal mitochondrial morphology,... OMIM:302060
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper l... ORPHA:371428
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High pal... OMIM:618393
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia ORPHA:79278
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... OMIM:614294
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Myopathy, Atrophic scars, S... OMIM:616471
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... ORPHA:398069
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia OMIM:613561
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Cryptorchidism, Abno... ORPHA:352490
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... ORPHA:99852
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... ORPHA:2325
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasi... OMIM:234250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Cryptorchidism, Osteoporo... OMIM:613990
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Short neck, Paucity of anterior ... OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Scoliosis, Hearing impair... ORPHA:101078
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... OMIM:619375
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... ORPHA:199299
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, EEG abnormality, Scoliosis, Delaye... OMIM:301900
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Decreased circulating antibody level, Weight loss, Leu... ORPHA:33355
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Thoracic scoliosi... ORPHA:2959
N Syndrome
Abnormality of chromosome stability, Leukemia, Cryptorchidism OMIM:310465
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... OMIM:254090
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Aplasia/Hypopla... ORPHA:2471
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... ORPHA:1775
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis, Absence of pubertal development, Hypogonadism, Hearing impairment OMIM:615267
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... ORPHA:77296
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98754
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Anemia of inadequate production OMIM:612714
Ataxia-Telangiectasia
Skeletal muscle atrophy, Abnormality of chromosome stability, Hypopigmentation of hair, Diabetes ... ORPHA:100
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ... OMIM:613662
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Nail dysplasia... OMIM:615704
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive, He... OMIM:618237
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contrac... OMIM:215100
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ... OMIM:301078
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism ORPHA:85288
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Shashi-Pena Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, C... OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, H... OMIM:606612
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98793
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... OMIM:615084
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Leukopenia, Aplasi... ORPHA:227990
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Diabetes mellitus,... ORPHA:3242
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Kyphosis, Synophrys, Cleft palate, Protruding ear, Decreased circulating anti... ORPHA:85317
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Anterior pituitary... ORPHA:227982
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Sensorineural hearing impairment, M... OMIM:616455
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177904
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Decreased m... ORPHA:298
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Osteoporosis,... OMIM:613989
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreased pr... OMIM:607594
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Osteoporosis OMIM:614838
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177901
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... OMIM:619542
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Icf Syndrome
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Cachexia, Abnormal cranial nerve morpho... ORPHA:97229
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Os... OMIM:259450
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Short neck, Cryptorchidism, Flexion contracture, Failure to thriv... ORPHA:98791
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Microcytic anemia OMIM:618972
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... ORPHA:895
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... ORPHA:897
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Congenital sensorineural hearing impairment, Sensor... ORPHA:73272
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Recurrent fractures, Mic... ORPHA:168569
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Ca... ORPHA:2930
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Bicuspid aortic valve, Thick hair, Ventricular septal defect, Cardiomeg... ORPHA:363705
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
L-Ferritin Deficiency
Alopecia OMIM:615604
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Lipodystrophy, Kyphosco... ORPHA:75496
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hyperlordosis, Spinal rigidity, Pyloric stenosis, Centrally nucleated skeletal muscle... OMIM:613327
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Umbil... OMIM:102500
Macs Syndrome
Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Osteoporo... OMIM:613075
Juvenile Paget Disease
Abnormality of retinal pigmentation, Recurrent fractures, Hearing impairment, Cranial hyperostosi... ORPHA:2801
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis... OMIM:615830
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Delayed puberty, Dis... ORPHA:2598
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scoliosis,... OMIM:236200
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Pericardial eff... ORPHA:2905
Autosomal Recessive Spastic Paraplegia Type 53
Abnormality of the auditory canal, Kyphosis, Joint hyperflexibility, Upper limb hypertonia, Failu... ORPHA:319199
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Abnormal toenail morphology, Abnormality of ... ORPHA:494
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Normochromic m... OMIM:610198
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Osteoporosis, Delayed puberty, Hypertrophic cardiomyopathy, Failure to ... ORPHA:369
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism OMIM:620365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... OMIM:150800
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... OMIM:301040
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Sparse eyebrow, Osteoporos... OMIM:614008
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly ORPHA:85447
Acatalasemia
Microcytic anemia ORPHA:926
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involvin... ORPHA:88630
Hemifacial Atrophy, Progressive
Tongue atrophy, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia, Microtia OMIM:141300
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Decreased body weigh... ORPHA:2985
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia OMIM:255125
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorch... OMIM:619718
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Osteoporosis, Failure to thrive ORPHA:79301
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Thrombocytopenia, Osteoporosis, Pathologic fracture, Optic atrophy, Fine hair, Premat... OMIM:612199
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Kerion Celsi
Alopecia ORPHA:499
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Pulmonic stenosis, Hypochromic a... ORPHA:99147
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc... ORPHA:98850
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Progressive hearing i... OMIM:613849
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... OMIM:125250
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH le... OMIM:219090
Ane Syndrome
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:157954
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... ORPHA:79474
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegal... ORPHA:1517
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Hypospadias, Micropenis OMIM:618840
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Kyphosis, Synophrys, Protruding ear, Decreased circulating total IgM, Scolios... OMIM:300861
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia OMIM:619013
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardio... ORPHA:66634
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Sho... ORPHA:2983
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis OMIM:257200
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Diencephalic Syndrome
Cachexia, Macrotia, Long penis, Optic atrophy, Hyperhidrosis, Decreased body weight, Abnormality ... ORPHA:1672
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Precocious puberty, Osteopo... ORPHA:447980
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity, Cerebral atrophy, Scol... OMIM:616756
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... ORPHA:2251
Werner Syndrome
Low back pain, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral den... OMIM:277700
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Diffuse cerebral atrophy, Kyphoscoliosis, Cervical spondylosis, Pseudobulbar paralysis... ORPHA:199354
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hearing impairment ORPHA:796
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... ORPHA:331206
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hyperextensibility of the finger joints, Cryptorchidism, Patent ductus arteri... OMIM:619797
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction veloci... ORPHA:99014
Osteoporosis
Osteoporosis OMIM:166710
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Bila... ORPHA:2409
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Dysmenorrhea, Increased sarcoplasmic glycogen, Abnormal er... ORPHA:264580
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98855
Srd5A3-Cdg
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Hearing impairment, Mi... ORPHA:324737
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Microtia, Camptodactyly, Intestinal lymphangiectasia, Hearing impairment OMIM:616006
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia OMIM:616278
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Intestinal Dysmotility Syndrome
Weight loss, Decreased intestinal transit time, High palate, Low-set ears, Failure to thrive OMIM:620045
Arthrogryposis, Distal, Type 2A
Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contractur... OMIM:193700
X-Linked Agammaglobulinemia
Alopecia, Osteomyelitis, Malabsorption, Thrombocytopenia, Sensorineural hearing impairment, Hypop... ORPHA:47
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Type II diabetes mellitus, Gout OMIM:610947
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... OMIM:219080
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
46,Xx Gonadal Dysgenesis
Osteopenia, Premature ovarian insufficiency, Streak ovary, Sparse pubic hair, Increased circulati... ORPHA:243
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Sensorineural hearing impairment ORPHA:71267
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... OMIM:601455
Mucopolysaccharidosis, Type Iva
Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bod... OMIM:253000
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... ORPHA:894
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Proximal amyotrophy, Scoliosis OMIM:617404
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy... ORPHA:101085
Wilson Disease
Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight,... ORPHA:905
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Pulmonary Blastoma
Weight loss ORPHA:64741
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Lymphadenopathy ORPHA:397596
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... ORPHA:273
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... OMIM:613265
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy, Camptodactyly OMIM:618453
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Mogs-Cdg
Decreased circulating IgG level, Absent brainstem auditory responses, Alopecia, Thoracic scoliosi... ORPHA:79330
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Osteopenia, Camptodactyly of finger, Osteomalacia, Mal... ORPHA:2176
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Isaacs Syndrome
EEG abnormality, Calf muscle hypertrophy, Weight loss, Hyperhidrosis ORPHA:84142
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... ORPHA:157973
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Flexion contracture OMIM:203550
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess OMIM:241600
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h... ORPHA:330015
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Dilated cardiomyopathy, Oste... ORPHA:2326
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98853
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor... ORPHA:1979
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Hepatomegaly, Iron deficiency anemia, Decreased body weight, Hypothyroidism OMIM:607906
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia OMIM:619750
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Gastroesophageal reflux, Hirsutism, Scoliosis OMIM:300434
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Hepatomegaly, Pericardial effusion, Osteoporosis, Hepatosplenomeg... OMIM:619487
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Abnormal pinna morphology, Abnormal hair morphology, Osteoporosis, Low-set ears OMIM:601811
Ck Syndrome
Posteriorly rotated ears, Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal cortical bone... OMIM:300831
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, Osteoporosis... ORPHA:1515
Propionic Acidemia
Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Cardiomyopathy, Neutropenia, Failure to thrive,... OMIM:606054
Bresek Syndrome
Alopecia, Cryptorchidism, Hemivertebrae, Scoliosis, Decreased testicular size ORPHA:85284
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Esophageal ... OMIM:224230
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia ORPHA:79351
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Dysmenorrhea, Splenomegaly, Limb-girdle muscle weakness, R... ORPHA:79240
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Flexion contracture, Osteoporosis, Optic atrophy, Cerebral atrophy, Large ear... OMIM:615851
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Posteriorly rotated ears, Cryptorchidism, Pyloric stenosis, Prominent ear helix, Flex... OMIM:614438
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal pinna morphology, Recurr... OMIM:309583
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Anemia, Hepatomegaly ORPHA:100025
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Underfolded helix, Kyphoscoliosis,... OMIM:268400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I... OMIM:560000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Satoyoshi Syndrome
Alopecia, Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertrophy, Hypoplasi... OMIM:600705
Pachydermoperiostosis
Gastrointestinal hemorrhage, Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morpholog... ORPHA:2796
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... OMIM:609136
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow ORPHA:2429
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... ORPHA:536516
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, C... OMIM:300280
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Short neck, Weight loss, Joint hyperflexibility, Hernia, Atrial septal defect, Hype... ORPHA:1842
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... ORPHA:955
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal... ORPHA:93160
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Pseudopseudohypoparathyroidism
Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia OMIM:612463
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone sti... ORPHA:488632
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Menkes Disease
Joint laxity, Alopecia, Brittle hair, Osteoporosis, Hypsarrhythmia, Sparse hair, Hypopigmentation... OMIM:309400
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Cachexia, Joint hyperflexibility, Gastroesophageal ref... ORPHA:85278
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon... OMIM:208230
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Failure to thrive, Facial palsy, Absent eyelashes, Hypogonadism, Sparse... ORPHA:2316
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Flexion contracture, Obesity, Hypogonadis... OMIM:615547
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Abnormal form of the ver... ORPHA:2067
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:930
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Lym... OMIM:618935
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Low anterior hairline, High palate, Wrist flexion contractur... ORPHA:800
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy... ORPHA:160
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Exter... ORPHA:2671
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Sneddon Syndrome
Lymphopenia OMIM:182410
Pseudohypoparathyroidism, Type Ia
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hor... OMIM:103580
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced b... ORPHA:970
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Cerebellar atrophy, Optic atrophy, Osteoporosis, EEG abnormality ORPHA:529665
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic lab... OMIM:609128
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Synop... OMIM:619260
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Cerebellar atrophy, Large for gestational age, Patent ductus arteriosus, Osteoporosis... OMIM:615398
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Muscular dystrophy OMIM:204730
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Squalene Synthase Deficiency
Posteriorly rotated ears, Hypospadias, Failure to thrive in infancy, Optic nerve hypoplasia, Bila... OMIM:618156
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Kyphosis, Sensorineural hearing impairment, Coarse hair, J... ORPHA:1883
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive ORPHA:99931
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr... OMIM:606631
Alstrom Syndrome
Hepatomegaly, Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stim... OMIM:203800
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Pseudohypoparathyroidism, Type Ic
Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh... OMIM:612462
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Scoliosis, Reduced bone mineral density ORPHA:466926
Encephalocraniocutaneous Lipomatosis
Alopecia, Ventricular septal defect, Cryptorchidism, Lipoma, Subvalvular aortic stenosis, Atrial ... OMIM:613001
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
X Small Rings
Joint laxity, Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:96201
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... ORPHA:2221
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Kyphosis, Knee... OMIM:313420
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... ORPHA:3082
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Coronal craniosynostosis ORPHA:228390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Absent brainstem auditory responses, Caudate atrophy, Sensorineural... ORPHA:52368
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased serum serot... ORPHA:100083
Orthostatic Hypotension 2
Anemia OMIM:618182
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, ... ORPHA:85450
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Joint laxity, Abnormal pinna morphology, Hypospadias, Cryptorchidis... OMIM:300354
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Limited elbow extension OMIM:180870
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, B... ORPHA:2848
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Ovarian neoplasm, Weight l... ORPHA:83469
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... ORPHA:2890
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Alpha-Mannosidosis
Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Narrow palate, Macroglossia, Arthr... ORPHA:61
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Generalized hirsutism, Hyperlordo... ORPHA:354
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Spinal canal stenosis, Obesity, Cong... OMIM:614613
Mucopolysaccharidosis, Type Ivb
Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffne... OMIM:253010
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to... ORPHA:2788
Johanson-Blizzard Syndrome
Alopecia, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal hair pattern, Diabetes mellitu... ORPHA:2315
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... ORPHA:2078
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Absent ey... ORPHA:166035
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Cryptorchidism, Patchy alopecia, Camptodactyly of finger ORPHA:85279
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... OMIM:277580
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Short neck, Cachexia, Kyphos... ORPHA:85293
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Huntington Disease-Like 2
Caudate atrophy, Cerebral cortical atrophy, Weight loss ORPHA:98934
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ... OMIM:133540
Dyskeratosis Congenita, X-Linked
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Hyperhidrosis, Premature graying ... OMIM:305000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Sensorineural hearing impairme... OMIM:602152
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchi... ORPHA:217346
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Satoyoshi Syndrome
Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus... ORPHA:3130
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Menorrhagia, Increased mean platelet volume OMIM:617443
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Generalized amyotrophy, Se... OMIM:619423
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Flexion contracture, Knee flexion contracture, Reduced bone min... ORPHA:2614
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... ORPHA:1133
Tuberculosis
Weight loss ORPHA:3389
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess ORPHA:89937
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Highly arched eyebrow, Kyphosis, Low-set ears, Scoliosis, Arthrogrypos... OMIM:615834
Rhizomelic Chondrodysplasia Punctata
Alopecia, Limitation of joint mobility, Epiphyseal stippling, Scoliosis, Spina bifida occulta, Sp... ORPHA:177
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Atr... OMIM:245600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Posteriorly rotated ears, Facial hypotonia, Cachexia, Short neck, Fa... OMIM:616801
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism OMIM:300602
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia OMIM:616100
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... ORPHA:628
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... OMIM:619488
Tenosynovial Giant Cell Tumor
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Joint stiffness, Limitat... ORPHA:66627
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia, Joint stiffness ORPHA:1144
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated skeletal muscle fibe... OMIM:248800
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Thin bony cortex, Interphalangeal joint contracture of finger, Kypho... OMIM:259600
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... OMIM:600785
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join... ORPHA:1159
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Short neck, Reduced bone mineral density, Pulmonic stenosi... OMIM:615279
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Small scrotum, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis,... ORPHA:3253
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing imp... ORPHA:1933
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... OMIM:614837
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Failure to thrive, Osteoporosis, Steatorrhea OMIM:266510
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... ORPHA:2311
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Lymphadenopathy, Decreased eosino... ORPHA:2686
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Sensorineural hearing ... OMIM:239000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... ORPHA:3440
Baralle-Macken Syndrome
High, narrow palate, Kyphosis, Obesity, Global brain atrophy, Cafe-au-lait spot, Hirsutism OMIM:619255
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scolio... OMIM:610743
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Hypogonadism, Generalized amyotrophy, Elevated circulating foll... OMIM:602668
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia OMIM:212360
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, H... OMIM:617523
Desbuquois Dysplasia 1
Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... OMIM:251450
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Craniosynostosis, Short neck, Precocious puberty, Kyphosi... ORPHA:254346
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Xp21 Deletion Syndrome
Joint laxity, Decreased muscle mass, Hypogonadotropic hypogonadism, Primary adrenal insufficiency... ORPHA:261476
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Ventral hernia, Alopecia, Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kypho... ORPHA:536532
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Diabetes mellitus, Small for gestational age, Oligozoospermia, Cl... OMIM:614813
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... ORPHA:1882
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Glycogen Storage Disease Xii
Normocytic anemia, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic anemia, Cholelithi... OMIM:611881
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... ORPHA:2884
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis,... OMIM:615761
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Weight loss, Increased circulating ant... ORPHA:411593
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Abnormal pinna mo... ORPHA:1900
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Decreased testicular size, Anemia OMIM:620040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Klippel-Trénaunay Syndrome
Microcytic anemia ORPHA:90308
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis,... ORPHA:98848
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Analbuminemia
Lipodystrophy, Osteoporosis OMIM:616000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Highly arched eyebrow, Microcytic anemia, Cryptorchidism, Insulin-... ORPHA:293967
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Multifocal epileptiform discharges, Scoliosis ORPHA:505652
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis,... ORPHA:39041
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Brittle Cornea Syndrome
Sensorineural hearing impairment, Osteoporosis, Abnormality of hair pigmentation, Cleft palate, I... ORPHA:90354
Odontochondrodysplasia 1
Biconvex vertebral bodies, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, Delayed ossifica... OMIM:184260
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Cystic Echinococcosis
Hepatomegaly, Eosinophilia, Abnormality of the testis size, Bone cyst, Abnormal heart morphology,... ORPHA:400
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... OMIM:193510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Myositis, Hyperthyroidism, Osteomyelitis, Autoimmune throm... ORPHA:37042
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Splenomegaly, Loss of eyela... OMIM:263700
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring ORPHA:346
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, O... ORPHA:96253
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Abnormal lymphocyte morphology, Abnormality of the nail ORPHA:2584
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Sensorineura... ORPHA:1215
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia OMIM:530000
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Infertility, Scoliosis, Limb muscle weakness, Low... OMIM:614409
Waardenburg Syndrome, Type 3
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Partial albinism, Synophrys, Se... OMIM:148820
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficien... ORPHA:1667
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Highly arched eyebrow, Congenital di... ORPHA:280
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... ORPHA:3143
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Decreased activity of mitochondrial respiratory chain, Hypochromic mic... OMIM:619147
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasi... OMIM:240300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic... OMIM:304790
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss ORPHA:54251
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protruding ear, Reduced... ORPHA:261318
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis OMIM:614898
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, S... ORPHA:47612
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Obesity, Weight loss, H... ORPHA:251071
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Facial myokymia OMIM:620007
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Eosinophilia, Spinal canal stenosis, Pulmonic stenosis, Atrial septal de... OMIM:618282
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Cerebellar vermis atro... OMIM:617988
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... OMIM:618186
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr... OMIM:252920
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Congenital foot contractures... OMIM:314580
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia OMIM:612073
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Short neck, Joint stiffness, Kyph... OMIM:230500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se... ORPHA:536471
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Cerebrotendinous Xanthomatosis
Osteopenia, Cerebellar atrophy, Abnormality of the vertebral spinous processes, Optic disc pallor... ORPHA:909
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior b... OMIM:230650
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia OMIM:251110
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Cleidocranial Dysplasia
Recurrent fractures, High, narrow palate, Abnormal sacrum morphology, Hearing abnormality, Osteop... ORPHA:1452
Emanuel Syndrome
Sacral dimple, Torticollis, Failure to thrive, Intestinal malrotation, Congenital diaphragmatic h... OMIM:609029
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Osteopenia, Lipodystrophy, Loss of subcuta... OMIM:248370
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis, Cellul... ORPHA:3165
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hy... ORPHA:177910
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia OMIM:617941
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Apl... ORPHA:221008
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,... ORPHA:813
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Arthritis, Abnorma... ORPHA:3287
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Membranous subvalvular aortic stenosis, Type II d... ORPHA:3191
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Inguinal hernia, La... ORPHA:544488
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, High palate, Osteoporosis, Peripapillary atrophy, Scolio... ORPHA:536467
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Secun... OMIM:619951
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Camptodactyly, ... OMIM:619123
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hypos... OMIM:169400
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Limb-girdle muscle weakness, ... ORPHA:171436
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Hyperthyroidism, Diabetes mellitus, Facial palsy, Hearing impairment, Quadric... ORPHA:254892
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
Noonan Syndrome 14
Curly hair, Scapular winging, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism, Low posterior... OMIM:619745
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum atrial septal defect... OMIM:300855
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... ORPHA:276
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Hypermelanotic ma... ORPHA:90321
Mgat2-Cdg
Low-set, posteriorly rotated ears, Osteopenia, Failure to thrive, Impaired lymphocyte transformat... ORPHA:79329
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Abnormality of the anterior pituitary, Coarse ... ORPHA:75389
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, EEG with abnormally slow frequencies, Abnormal reproductive system morp... ORPHA:70472
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... ORPHA:397744
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Type II diabetes mellitus... ORPHA:412057
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Vertigo, Sensorineural hearing impairment, Leukocytosis,... ORPHA:3226
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Thrombocyt... OMIM:209950
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Ventricular septal defect, Short neck, Scoliosis, Hypertrichosis OMIM:619762
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... ORPHA:3121
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Sparse eyelashes, A... ORPHA:2909
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Bicuspid aortic valve, Ventricular sept... OMIM:130720
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Elbow flexion contracture, Osteoporosis, Pathologic fracture,... OMIM:601559
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Decreased activity of mitochondrial complex IV, Cachexia, Weight loss OMIM:612075
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, Fine ... OMIM:222700
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Torticollis, Neoplasm of the pancreas, Metrorrhagi... ORPHA:370348
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Ectopic o... OMIM:135100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... OMIM:557000
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck,... ORPHA:2789
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg... ORPHA:1328
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... ORPHA:90646
Mycetoma
Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Painles... ORPHA:2583
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Anemia, Pro... OMIM:175500
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Inguinal hernia, Ventricular septal defect, Hypospadias, Cryptorchidism, Dilatatio... ORPHA:459070
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Bone cyst, O... ORPHA:3042
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum... ORPHA:64755
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Male pseudohermaphroditis... ORPHA:2075
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Optic atrophy, Scoliosis, Cere... ORPHA:702
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Dis... ORPHA:3208
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Tendon xanthomatosis, Osteoporosis, Cerebral atrophy, Pseu... OMIM:213700
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... ORPHA:77259
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis OMIM:176670
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... ORPHA:3322
Leigh Syndrome
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Decrea... ORPHA:506
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Harrod Syndrome
Hypospadias, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Protruding ear, Joint hyperfle... ORPHA:2115
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Facial ... OMIM:259720
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Monosomy 22
Aplasia of the thymus, Short neck, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Tetrasomy 12P
Cachexia, Short neck, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Joint hyperf... ORPHA:884
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Decreased muscle mass, Limited wrist extension, Kyphosis, Pr... OMIM:108145
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ... OMIM:216400
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, M... OMIM:607155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Synostosis of carpal b... ORPHA:93351
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, High, narro... ORPHA:96169
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Puberty and gonadal disorders, Kyphosis, Senso... ORPHA:464282
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Dec... OMIM:214500
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorc... OMIM:248700
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Hearing abnormality, Os... OMIM:616507
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Abnormality of retinal pigmentation, Recurrent fr... ORPHA:394
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Long eyelashes, Biconca... OMIM:617952
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple, Truncal obesity, Abnormal vertebral morphology ORPHA:3224
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Hearing impa... ORPHA:65682
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyop... OMIM:618250
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Hyperhidrosis, Distal amyotrophy... OMIM:609541
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Hypoplasia of the ear cartilage ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Hepatomegaly ORPHA:86893
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... ORPHA:231183
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormality of the vertebral column, Absent extraocular muscles... OMIM:109120
Trisomy 13
Abnormal eyelash morphology, High, narrow palate, Kyphosis, Cryptorchidism, Patent ductus arterio... ORPHA:3378
Immunodeficiency 12
Abnormal lymphocyte count, Esophageal stricture, Osteoporosis, Absent isohemagglutinin level, Dec... OMIM:615468
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Failure to thrive ORPHA:50812
Cockayne Syndrome Type 2
Hepatomegaly, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadi... ORPHA:90322
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Osteo... OMIM:307030
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Osteoporo... OMIM:226980
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... ORPHA:2269
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Cryptorchidism, Kyphosis, Low ante... OMIM:619244
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Alopecia, Joint stiffness, Kyphosis, Hypohidrosis, Abnormal an... ORPHA:1005
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Kyphosis, Aplasia/Hypoplasia o... ORPHA:2916
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Low-set ears, Generalized hirsutism, ... ORPHA:238750
Alexander Disease Type I
Cerebellar atrophy, Cachexia, Scoliosis, Dysphagia, Failure to thrive ORPHA:363717
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4+ effector me... ORPHA:90362
Cohen Syndrome
Ventricular septal defect, Thick hair, Failure to thrive in infancy, Abnormal eyelash morphology,... ORPHA:193
Fanconi Anemia
Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, High palate, Abnormal... ORPHA:84
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pulsatile tinnitus, Episodic hyperhidrosis, Paroxysmal vertigo, C... ORPHA:94080
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Recurrent fractures, Sensorineural hearing impairment, Elevated circulating th... OMIM:601812
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Camptodactyly of finger, Recurrent fractures, Flexion contracture, Elb... ORPHA:3206
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Kyphosis, Flexion contr... ORPHA:314588
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis ORPHA:3454
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency, Impotence, Hypogonadism, Lower limb muscle weakness OMIM:300100
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h... OMIM:617602
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, Ragged-red musc... ORPHA:17
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Join... ORPHA:2510
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Posteriorly rotated ears, Facial palsy, Short neck, Kyphosis, Achilles tendon co... OMIM:301041
Mucopolysaccharidosis, Type Vii
Short neck, Thoracolumbar kyphosis, Flexion contracture, Coarse hair, Anterior beaking of lumbar ... OMIM:253220
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Diastasis recti, Flexion contracture, Hypochromic microcytic anemia, Arthrogrypo... ORPHA:440713
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia ORPHA:1647
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Amish Lethal Microcephaly
Cleft soft palate, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decreased skull oss... ORPHA:99742
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic r... OMIM:163200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... ORPHA:3464
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... ORPHA:881
Dpagt1-Cdg
EEG with generalized slow activity, Flexion contracture, Osteoporosis, Hypertrichosis, Optic atro... ORPHA:86309
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Mitral valve pro... ORPHA:137834
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Kyphoscoliosis, Supernumerary nipple, Scarring, Leukocytosis... OMIM:308300
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... OMIM:615108
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Synophrys, Atlant... ORPHA:536545
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Short Syndrome
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, W... ORPHA:3163
2P15P16.1 Microdeletion Syndrome
Facial palsy, Supernumerary nipple, Camptodactyly of finger, Sparse eyebrow, Kyphosis, Optic nerv... ORPHA:261349
Koolen-De Vries Syndrome
Anteverted ears, High palate, Iris hypopigmentation, Vertebral fusion, Cryptorchidism, Patent duc... OMIM:610443
Marshall-Smith Syndrome
Craniosynostosis, Protruding tongue, Optic atrophy, Reduced bone mineral density, Increased susce... ORPHA:561
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Obesity, EEG abnormality, Hypopigmentation of the skin, Iris hypopigmen... ORPHA:411515
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Eisenmenger Syndrome
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... ORPHA:97214
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Anterior beaking of lum... ORPHA:349
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Proximal amyotrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impai... ORPHA:95433
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Na... OMIM:605676
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck,... OMIM:300514
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Sparse scalp hair, Carpal synostosis, Bicuspid aortic valve, Ovoid vertebral bodies... OMIM:271640
Nijmegen Breakage Syndrome
Abnormal hair quantity, Skeletal muscle atrophy, Anal stenosis, Abnormality of chromosome stabili... ORPHA:647
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Limited shoulder movement, ... ORPHA:576
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH level, Weight ... ORPHA:100075
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair ORPHA:1839
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears, Abnorma... ORPHA:2522
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, A... ORPHA:221016
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... OMIM:615109
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Short neck, Abnormal antihelix morphology, Large earlobe, Low-se... ORPHA:1438
Distal Deletion 19P
Alopecia, Vaginal hernia, Ventricular septal defect, Keloids, Joint hyperflexibility, Tricuspid v... ORPHA:96129
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Abnormal pinna morphology, Intestinal malrotation, Low-set ears ORPHA:77300
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Kallmann Syndrome
Decreased testicular size, Dyspareunia, Hypoplasia of penis, Hypothalamic gonadotropin-releasing ... ORPHA:478
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... ORPHA:206436
Sialidosis Type 1
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Sensorineural hearing imp... ORPHA:812
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Cerebral cortical atrophy, Weight... ORPHA:1164
Farber Disease
Skeletal muscle atrophy, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly,... ORPHA:333
Autosomal Recessive Robinow Syndrome
Sacral dimple, Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptoda... ORPHA:1507
Pituitary Apoplexy
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... ORPHA:95613
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... OMIM:158350
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Pineal cyst OMIM:618885
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:1572
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Short neck, Kyphosis, Limitation of joint mobility, Abnormal form of the ... ORPHA:3098
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... ORPHA:90156
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline... ORPHA:404440
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Decreased plasma total c... ORPHA:42
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, High, narrow palate, Sensorin... ORPHA:53271
Mirage Syndrome
Cryptorchidism, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicular size, T... OMIM:617053
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Lig4 Syndrome
Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, ... ORPHA:99812
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Facial hypotonia, Abnormality of muscle size, Uplifted earlobe, Cryptorchidism, Kyp... ORPHA:364028
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Lumbosacral meningocele, Acanthocytosis, Sc... OMIM:607330
Adams-Oliver Syndrome
Alopecia, Failure to thrive, Abnormal pulmonary valve morphology, Aplastic/hypoplastic toenail, L... ORPHA:974
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Papilledema, Intestinal pseudo-obstruction, Hearing impairme... OMIM:309900
Dietary Iron Overload Disease
Diabetes mellitus, Abnormal thyroid morphology, Esophageal carcinoma, Abnormal pancreas morpholog... ORPHA:139507
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Myositis, Pericarditis, Hepatomegaly, Joint stiffness, Splenomegaly, ... ORPHA:809
3C Syndrome
Hypoplasia of penis, Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology... ORPHA:7
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Ménétrier Disease
Hypochromic microcytic anemia ORPHA:2494
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosi... OMIM:259770
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Glass Syndrome
Posteriorly rotated ears, Facial hypotonia, Cleft palate, Long eyelashes, High palate, Nail dyspl... OMIM:612313
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Posteriorly rotated ears, Small for gestational age, A... ORPHA:171929
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Hepato... OMIM:615595
Alg1-Cdg
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Kyphosis, Limitation of joint mobi... ORPHA:79327
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia ORPHA:309031
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Nail dystrophy, Nail dysplasia, ... OMIM:226600
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Polycythemia, Perimem... OMIM:606812
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... ORPHA:143
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypogonado... OMIM:241080
Brittle Cornea Syndrome 1
Joint laxity, Scoliosis, Red hair, Spondylolisthesis, Hearing impairment OMIM:229200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Sézary Syndrome
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Splenomegaly, Nail dystrophy, Abnormal lymphocyt... ORPHA:3162
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ... OMIM:614072
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails OMIM:226650
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Dysphagia, Cerebellar... OMIM:617435
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, K... OMIM:618291
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia OMIM:251100
Pfapa Syndrome
Splenomegaly, Arthritis, Weight loss, Malabsorption ORPHA:42642
Pycnodysostosis
Ridged nail, Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral d... ORPHA:763
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis, Aortic valve stenosis OMIM:252605
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Short neck, Elbow flexion contractu... ORPHA:371364
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ... ORPHA:35173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Alopecia, Pos... ORPHA:2636
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... OMIM:619377
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Joint laxity, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord... OMIM:162300
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegal... ORPHA:583
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Osteopenia, Scarring, Anisocytosis, Inc... ORPHA:79277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Pre... ORPHA:438213
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Anemia, Neutropenia, Lymphope... OMIM:242900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Chronic neutropenia, Irregular menstruation, Thyroiditis, Enlarged kidn... ORPHA:79259
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Neutropenia OMIM:616395
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... OMIM:249420
Monosomy 18P
Alopecia, Kyphoscoliosis, Short neck, Low posterior hairline, Hypothyroidism ORPHA:1598
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Failure to thrive, Pancytopenia, Hypospadias, Hyperpigmented/hypopigmented macules, C... OMIM:620331
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Rectourethral fistul... OMIM:603116
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli c... OMIM:175200
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia OMIM:615816
Adrenomyodystrophy
Generalized hyperpigmentation, Primary adrenal insufficiency, Reduced bone mineral density, Myopa... ORPHA:977
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia ORPHA:247691
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Scapular winging, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hair... OMIM:617061
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Dilated cardiomyopathy, Osteoporosis, Ir... ORPHA:79408
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl... ORPHA:2298
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Senso... ORPHA:163746
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Shor... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... OMIM:300534
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Hepatocellular carcinoma, Decreased nerve con... OMIM:277900
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Nail dystrophy, Alopecia totalis, Joint stiffness ORPHA:1366
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia, Weight loss ORPHA:79242
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility OMIM:619131
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Joint ... ORPHA:2655
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, EEG abnormality, Gastroesophageal reflux, Scoliosis,... OMIM:312750
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Tracheoesophageal fi... ORPHA:93941
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Abnormal heart morpholo... ORPHA:85443
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Agammaglobulinemia, X-Linked
T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Hardikar Syndrome
Cleft soft palate, Thoracolumbar scoliosis, Patent ductus arteriosus, Vertigo, Osteoporosis, Hepa... OMIM:301068
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hyperhidros... ORPHA:1545
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Huntington Disease-Like 2
Cerebral cortical atrophy, Weight loss OMIM:606438
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Cystic Fibrosis
Osteopenia, Absent vas deferens, Meconium ileus, Malabsorption, Exocrine pancreatic insufficiency... ORPHA:586
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Hy... ORPHA:365
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Villous atrophy, Diabetes mellitus, Osteomyelitis, Impaired ... OMIM:614162
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked... ORPHA:99027
Occipital Horn Syndrome
Joint laxity, Orthostatic hypotension, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporo... OMIM:304150
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Cartilage-Hair Hypoplasia
Short neck, Abnormal form of the vertebral bodies, Abnormal bone ossification, Sparse hair, Neutr... ORPHA:175
Primary Sclerosing Cholangitis
Osteopenia, Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Celiac ... ORPHA:171
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, Osteolytic defe... OMIM:259100
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Kyphosis, Sensorineur... ORPHA:521426
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Decreased sensory nerve conduction velocity, Facial hypotonia, Oral-pharyngeal dyspha... OMIM:615273
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Osteoar... OMIM:108300
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Macrocephaly/Autism Syndrome
Hydrocele testis, Splenomegaly, Lymphopenia OMIM:605309
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Osteomyelitis, Kyphosis, Gastrointestinal dysmotility, A... ORPHA:88628
Wolman Disease
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal ... ORPHA:75233
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, P... ORPHA:97289
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Ky... ORPHA:582
Fountain Syndrome
Craniofacial hyperostosis, Kyphosis, Synophrys, Sensorineural hearing impairment, Abnormal form o... ORPHA:3219
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocy... ORPHA:520
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Synophrys, Prominent prot... OMIM:300966
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstru... OMIM:607459
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Joint stiffness, Reduced bone mineral density, Distal amyotrophy,... ORPHA:1399
Reni Syndrome
Cryptorchidism, Lymphopenia OMIM:617575
Occipital Horn Syndrome
Osteopenia, Thick hair, Osteomalacia, Hiatus hernia, High, narrow palate, Kyphosis, Osteoporosis,... ORPHA:198
Giant Cell Arteritis
Alopecia, Diabetes insipidus, Joint stiffness, Vertigo, Optic atrophy, Hyperhidrosis, Weight loss... ORPHA:397
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Osteopenia, Scarring, Scarring alopecia of scalp, Spleno... ORPHA:95159
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Kyphosis, Sc... ORPHA:816
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Defective DNA repair afte... OMIM:610965
Familial Isolated Hyperparathyroidism
Osteopenia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyr... ORPHA:99879
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro... OMIM:266600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Kyphosis, Optic atrophy, Congenital hypothyroidism, Contractures of the... OMIM:617527
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Furrowed tongue, W... ORPHA:37
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormalit... ORPHA:391487
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Weight loss, Degeneration of the st... ORPHA:399
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, D... ORPHA:300605
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, S... OMIM:607015
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula... ORPHA:206443
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss ORPHA:248111
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut... OMIM:615387
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa... ORPHA:2108
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Kyphosis, Sensorineur... OMIM:211530
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia OMIM:618372
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... ORPHA:847
Polymyositis
Hepatomegaly, Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Weight loss... ORPHA:732
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Iron deficiency anem... OMIM:269200
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogo... OMIM:212065
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Nail dystr... ORPHA:90154
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Arthritis, Erectile dy... ORPHA:3452
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Posteriorly rotated ears... ORPHA:2215
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Protruding tongue, EEG with abnormall... ORPHA:98794
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Kyphosis, Cryptorchidism... OMIM:619005
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Abnormal large int... ORPHA:109
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Obesity, Abnormal granulocyte morphology, Cardiomyopathy, Shoulder girdle... ORPHA:98907
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Spotty hypopigmenta... ORPHA:401973
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy... ORPHA:3261
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Hypoplastic male external gen... ORPHA:1234
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... OMIM:603041
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... OMIM:166220
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Enlarged k... OMIM:618272
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct pro... OMIM:607626
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abn... ORPHA:3344
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Cerebral atrophy, EEG abnormality, Dysphagia, Limb hypertonia ORPHA:500180
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620005
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies... ORPHA:3107
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Sensorineural hearing impa... OMIM:613266
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Weight loss, Increased susceptibility to fractures, Pigmentary retinopathy, Dy... ORPHA:216866
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair... OMIM:129400
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Joint stiffness, Hypoplasia of the odontoid process, K... OMIM:607014
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Cerebra... OMIM:618443
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Abnormal pericardiu... ORPHA:35687
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Microcytic anemia, Cardiomegaly, Adipose tissue loss, Flexion contractur... OMIM:256040
3M Syndrome
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Incr... ORPHA:2616
Achondroplasia
Lumbar hyperlordosis, Hearing impairment, Hip joint hypermobility, Kyphosis, Spinal canal stenosi... ORPHA:15
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... OMIM:614564
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosi... ORPHA:824
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... ORPHA:97283
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hyp... OMIM:618541
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Ventricular septal defect, Diastasis recti, Congenital di... ORPHA:2092
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Abnor... ORPHA:904
Brucellosis
Knee osteoarthritis, Leukopenia, Hepatomegaly, Leukocytosis, Epididymitis, Anemia, Hypersplenism,... ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Inguinal hernia, Failure to thrive, Ventricular septal defect, Microcytic anemia, T... OMIM:619525
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Primary Biliary Cholangitis
Orthostatic hypotension, Increased circulating IgA level, Celiac disease, Abnormality of the thyr... ORPHA:186
Vici Syndrome
Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, De... OMIM:242840
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Alopecia, Sparse eyelashes OMIM:616367
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Sensorineural hearing impairment, Protruding ear, Joint hyperflexibility, E... ORPHA:2479
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Protruding ear, Fingernail dysplasia, ... ORPHA:236
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... OMIM:617143
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy ORPHA:100976
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Hypogonadism, Scoliosis, Micropenis, F... ORPHA:500055
Piebald Trait
Aganglionic megacolon, Partial albinism, Absent pigmentation of the ventral chest, Abnormality of... OMIM:172800
Spinocerebellar Ataxia 48
Cerebellar atrophy, Cachexia, Dysphagia OMIM:618093
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon, Low anterior hairline, Obesity ORPHA:261222
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Scarring OMIM:247100
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia ORPHA:71273
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Hyperconvex fingernails, Elbow ankylosis, Abnormal penis... ORPHA:2658
Ramon Syndrome
Optic disc pallor, Enlarged labia minora, Kyphosis, Hypertrichosis, Narrow palate, Pigmentary ret... OMIM:266270
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryptorchidism, F... OMIM:613451
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograd... ORPHA:49041
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Camptodactyly of fi... ORPHA:464
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Op... OMIM:618476
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive OMIM:610768
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Limb hypertonia OMIM:614219
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis, Weight loss, Hyperhidrosis, Bone marrow hypocellularity ORPHA:391
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Ear pain, Odynophagia, Cranial nerve compression, Weight loss, Abnorma... ORPHA:221098
Alexander Disease
Osteopenia, Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious pube... ORPHA:58
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Neutrophilia, Anemia, Microcytic anemia ORPHA:99843
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Inguinal h... ORPHA:558
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short neck, Hypoplastic toen... ORPHA:251014
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hyp... ORPHA:95409
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Sensorineural hearing impairment, Macroglossia, Scoliosis, Dysphagia, Achalasia ORPHA:79107
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific... ORPHA:93314
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Abnormality of the nail ORPHA:79394
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature,... ORPHA:2020
Thanatophoric Dysplasia Type 2
Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Joint hyperflexibility, Platysp... ORPHA:93274
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphos... OMIM:128100
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... ORPHA:99880
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Poikilocytosis, Acanthocytosis OMIM:618947
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Brain abscess, Liver abscess ORPHA:2038
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Huntington Disease-Like 1
Cerebellar atrophy, EEG abnormality, Cerebral cortical atrophy, Weight loss ORPHA:157941
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Diastasis recti, Kyphosis, Cryptorchidism, Limited kn... OMIM:277590
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Small for gestat... ORPHA:84064
Attrv122I Amyloidosis
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... ORPHA:85451
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossificatio... ORPHA:93360
Gomez-Lopez-Hernandez Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Craniosynostosis OMIM:601853
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Hepatosplen... ORPHA:85408
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphos... ORPHA:2911
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, External genital hypoplasia, Thin nail, Abnormal hair morphology, Small nail OMIM:242100
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Keutel Syndrome
Alopecia, Ventricular septal defect ORPHA:85202
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Recurrent fractures, Tarsal... ORPHA:565
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Weight loss, Iron deficiency anemia, Small intestine carcinoid, Increased ser... ORPHA:100078
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal def... OMIM:106260
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of movement at a... ORPHA:740
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Focal Myositis
Myositis, Limitation of joint mobility, Weight loss ORPHA:48918
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Alveolar Echinococcosis
Low back pain, Eosinophilia, Abnormal pericardium morphology, Pancreatic cysts, Bone cyst, Abnorm... ORPHA:284
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Scoliosi... ORPHA:2874
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Weight loss, Anaplastic thyroid c... ORPHA:142
Solitary Fibrous Tumor
Low back pain, Vaginal neoplasm, Weight loss, Prostate cancer, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
Fatal Familial Insomnia
Hyperhidrosis, Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Neuronal los... OMIM:600072
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Hyperthyroidism, Weight loss, Goiter OMIM:188580
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Uplifted earlobe, Kyphosis, Cleft palate, Furrowed tongue, Cerebral atrophy, Gastroe... OMIM:616449
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Uterine prolapse, Osteoarthritis of the small joints of the hand, Inguinal hernia, ... ORPHA:284984
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Alopecia, Scarring, Craniosynostosis, Anemia, Atrophic scars, Nail ... ORPHA:79396
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Hypoplastic nipples, Scol... OMIM:230740
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy ORPHA:543470
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscol... OMIM:300967
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Craniofacial hyperostosis, Kyphosis... ORPHA:192
Igg4-Related Aortitis
Low back pain, Intestinal obstruction, Increased circulating IgG4 level, Increased circulating Ig... ORPHA:449400
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Gastroesophageal reflux, Conductive hearing impai... ORPHA:1606
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Cor pulmonale, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, ... OMIM:158310
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper... ORPHA:276621
Duane Retraction Syndrome
Skeletal muscle atrophy, Central heterochromia, Patchy hypopigmentation of hair, Narrow internal ... ORPHA:233
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Leukopenia, Bone m... OMIM:615688
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A... ORPHA:79076
Chanarin-Dorfman Syndrome
Myopathy, Alopecia, Hepatomegaly OMIM:275630
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplastic finge... ORPHA:257
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent toenail, Absent fingernail... ORPHA:158687
Wiedemann-Rautenstrauch Syndrome
Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General... OMIM:264090
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Rhabdomyolysis, Gout, Iron def... ORPHA:358
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcifications, ... OMIM:302960
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine ORPHA:26790
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micropen... OMIM:619321
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Lymphadenopathy, Leukopenia, Normochromic anemia, Decreased proport... ORPHA:289390
Legionnaires Disease
Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kypho... OMIM:616894
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Absent circulating B cells OMIM:307200
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Abnormal cardiac septum ... OMIM:308050
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Camptodactyly of finger,... ORPHA:2273
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Lymphopenia, Anemia OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, High palate, Scoliosis OMIM:300676
Schinzel-Giedion Syndrome
Short neck, Anteriorly placed anus, High palate, Hepatoblastoma, Micropenis, Myeloid leukemia, St... ORPHA:798
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, S... ORPHA:1018
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy OMIM:616353
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Limitation of joint... ORPHA:90153
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Failure to thrive, Multiple joint contractures, Hypospadias, Anterior pituitar... ORPHA:464306
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Hyperlordosis, External ... ORPHA:568
Seckel Syndrome
Sparse scalp hair, Cachexia, Craniosynostosis, Abnormal earlobe morphology, Joint hyperflexibilit... ORPHA:808
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, EEG with focal epileptiform discharges, EEG abnormal... ORPHA:98795
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Paronychia, Dilated cardiomyopathy, Osteoporosis, Nail dystrophy, En... ORPHA:79404
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Obesity, EEG abnormality, Dysphagia, Hypopigmentatio... ORPHA:411511
Cranioectodermal Dysplasia 1
Joint laxity, Slow-growing hair, Short nail, Thin nail, Sagittal craniosynostosis, High, narrow p... OMIM:218330
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... ORPHA:2309
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... ORPHA:2774
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia ORPHA:48818
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Glucagonoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Acanthocytosis, Incr... ORPHA:97280
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Neutropenia, Gout, Inf... OMIM:232220
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... ORPHA:3453
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Ankylosis, Osteolysis, Sparse hair ORPHA:659
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Intestinal obstruction, Eosinophilia, Malabsorption, Hypopigmented skin patches, Weight... ORPHA:183
Olmsted Syndrome 1
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... OMIM:614594
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroi... ORPHA:1969
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Sensorineural hearing impairment, Weight loss, Distal amyotrop... OMIM:164310
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Upper limb muscle weakness, EEG abnormality, Erec... ORPHA:206448
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Failure to thrive, Fragile nails OMIM:242150
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Yao Syndrome
Ventricular hypertrophy, Arthritis, Pericarditis, Weight loss OMIM:617321
Tetrasomy 9P
Absent gallbladder, Sacral dimple, Myositis, Pericarditis, Dextrocardia, Abnormal dental enamel m... ORPHA:3310
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, ... OMIM:219800
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Rat-Bite Fever
Back pain, Pericarditis, Parotitis, Myocarditis, Oligoarthritis, Tendonitis, Endocarditis, Weight... ORPHA:31205
Holt-Oram Syndrome
Ventricular septal defect, Joint stiffness, Kyphosis, Anomalous pulmonary venous return, Radiouln... ORPHA:392
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Sensorineural hearing impairment, Hypopigmented sk... ORPHA:3214
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint m... ORPHA:2719
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morphology, Weight loss, Cardi... ORPHA:79430
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, S... ORPHA:261144
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal... OMIM:618050
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Joint hypermobility, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Spars... OMIM:261990
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250
Williams-Beuren Syndrome
Osteopenia, Rectal prolapse, Flexion contracture, Premature graying of hair, Early onset of sexua... OMIM:194050
Vipoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:97282
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Hypermelanotic macule, Weig... ORPHA:33276
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... OMIM:603387
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus, Low anterior hairline, Gastroesophageal reflux, Dysphagia, Li... OMIM:619909
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... ORPHA:958
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo... ORPHA:2396
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, EEG with abnormally slow frequencies, Kyphosis, Elbow flexion contracture, Obesi... OMIM:618493
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contr... ORPHA:464311
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Osteoporosis OMIM:601979
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Osteoporosis, He... ORPHA:470
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Microcytic anemia ORPHA:774
Juvenile Dermatomyositis
Calcinosis, Alopecia, Pericarditis, Myositis, Limitation of joint mobility, Weight loss, Cardiomy... ORPHA:93672
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Cowden Syndrome
Hamartomatous polyposis, High palate, Abnormality of the uterus, Abnormal penis morphology, Endom... ORPHA:201
Pyomyositis
Leukocytosis, Weight loss, Testicular teratoma, Myositis ORPHA:764
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect ORPHA:261190
Stevens-Johnson Syndrome
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal myocardium morph... ORPHA:36426
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Situs inversus totalis, Kyphosis, Mitral valve prolapse,... OMIM:609008
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Weight loss, Abnormal autonomic nervous system physiology, Autonomi... ORPHA:330001
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Osteoporosis, Cerebral cortical neurodegeneration, Cerebral atrophy, Bile duc... OMIM:203700
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... ORPHA:79102
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
17Q11 Microdeletion Syndrome
Osteopenia, Hypermelanotic macule, Rhabdomyosarcoma, Gastrointestinal stroma tumor, Kyphosis, Pre... ORPHA:97685
Glycogen Storage Disease Ia
Decreased muscle mass, Hepatocellular carcinoma, Osteoporosis, Gout, Delayed puberty, Pancreatitis OMIM:232200
Atypical Rett Syndrome
Kyphosis, Scoliosis, Functional abnormality of the gastrointestinal tract, EEG abnormality ORPHA:3095
Xeroderma Pigmentosum
Craniofacial hyperostosis, Alopecia, Cryptorchidism, Hypogonadism, Failure to thrive, Decreased t... ORPHA:910
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Low-set ears, Scoliosis, Failure to thrive ORPHA:420794
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated ci... ORPHA:1332
Polyarteritis Nodosa
Cardiomyopathy, Pericarditis, Weight loss ORPHA:767
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal mus... ORPHA:2461
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Synophrys, Bilateral camptodactyly, Protruding ear, Scoliosis, Absent earlobe, Hearing ... OMIM:619557
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Inguinal hernia, Failure to thrive, Short nail, Hypoplasia of the m... OMIM:278250
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Lipoatrophy, Absent eyelashe... ORPHA:363618
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... ORPHA:171876
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Osteomalacia,... OMIM:619381
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Oculocutaneous Albinism Type 1
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Atrial septal... OMIM:308205
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Tracheomalacia, Short neck, Kyphosis, Ma... ORPHA:140
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper... ORPHA:29072
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Thrombocytopenia, ... ORPHA:2072
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Macroglossia, Platyspondyly, Spondy... OMIM:208400
Ataxia-Telangiectasia
Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o... OMIM:208900
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey... ORPHA:238468
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly, Panniculitis, Hepatomegaly ORPHA:33577
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Alopecia OMIM:600142
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion,... ORPHA:781
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Osteosarcoma
Pathologic fracture, Osteolysis, Weight loss ORPHA:668
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin... ORPHA:29073
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Osteoporosis, Platyspondyly, Progressi... OMIM:225400
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functiona... ORPHA:1333
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... OMIM:177170
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Posteriorly rotated ears, Supernumerary nipple, Short neck, Pr... OMIM:619194
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Joint stiffness, Aortic valve calcif... ORPHA:56
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, Lymphopenia, Parotitis ORPHA:51636
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer... ORPHA:508533
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Leprosy
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Abnormality of the spleen, Loss of eyelashes, ... ORPHA:548
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Polycythemia Vera
Gastrointestinal hemorrhage, Myelofibrosis, Splenomegaly, Vertigo, Weight loss, Acute leukemia, T... ORPHA:729
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Orofaciodigital Syndrome Iii
Hyperconvex nail, Kyphosis, Tongue nodules, Low-set ears, Bifid tongue, Bifid uvula OMIM:258850
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... OMIM:610915
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Leukocytosis, Weight loss, Constrictive pericarditis, Anemia ORPHA:67
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Hiatus hernia, Precocious puberty, Cryptorchidism, Reduced bone minera... OMIM:616682
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... ORPHA:177907
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellit... ORPHA:96191
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Kyphosis, Optic atrophy, Knee flexion contracture, Inflammation of the large ... OMIM:619708
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... OMIM:616914
Proteus Syndrome
Decreased muscle mass, Central heterochromia, Neoplasm of the thymus, Abnormal form of the verteb... ORPHA:744
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... ORPHA:79078
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platys... ORPHA:1860
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Steatorrhea ORPHA:3217
X-Linked Creatine Transporter Deficiency
Joint hyperflexibility, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Zttk Syndrome
Absent gallbladder, Curly hair, Joint hypermobility, Craniosynostosis, Sparse eyebrow, Kyphosis, ... OMIM:617140
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Lumbar hyp... OMIM:143095
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial s... OMIM:306955
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Cerebellar atrophy, Posteriorly rotated ears, Hyperlordosis, Sparse eyebrow, Kyphos... OMIM:617011
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Neutropenia... ORPHA:537
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Gastroesop... OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphosco... ORPHA:457359
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Protruding ear, Gastroesophageal reflux, Chronic otitis media, Low-set, post... ORPHA:534
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Early balding, Low posterior hairline, Short neck ORPHA:261584
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Somatomammotropinoma
Diabetes mellitus, Abnormal fingernail morphology, Dysmenorrhea, Hypogonadotropic hypogonadism, E... ORPHA:314769
Kikuchi-Fujimoto Disease
Hepatomegaly, Alopecia, Splenomegaly, Myocarditis, Weight loss, Anemia, Leukopenia, Enlargement o... ORPHA:50918
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... OMIM:616294
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Gastroesophageal reflux, Cryptorchidis... ORPHA:191
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Weight loss ORPHA:188
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytop... OMIM:615846
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morp... ORPHA:77293
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Splenomegaly, Esophageal vari... ORPHA:131
Acromegaly
Diabetes mellitus, Abnormal fingernail morphology, Dysmenorrhea, Hypogonadotropic hypogonadism, E... ORPHA:963
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, High palate, Spina bifida occulta, Joint laxity, Clito... OMIM:135900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Hip contracture, Hypospadias, Kyphoscoliosis, Severe generalized osteoporosis... OMIM:210730
Adams-Oliver Syndrome 1
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic lef... OMIM:100300
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Atelis Syndrome 2
Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo... OMIM:620185
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, High, narrow palate, Kyphosis, Cleft palate, Furr... ORPHA:464738
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral ... ORPHA:818
Lujo Hemorrhagic Fever
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia ORPHA:319213
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Neurofibromatosis Type 1
Pheochromocytoma, Neoplasm of the gastrointestinal tract, Heterochromia iridis, Abnormality of th... ORPHA:636
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy OMIM:618373
Systemic Sclerosis
Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Myocarditis, Flexion contracture,... ORPHA:90291
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Skeletal muscle atrophy, Kyphosis, Scoliosis, Atrophy/Degeneration affecting ... ORPHA:88644
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... ORPHA:1798
Neuroblastoma, Susceptibility To, 1
Horner syndrome, Failure to thrive, Anemia, Weight loss OMIM:256700
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, High palate,... OMIM:609944
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Tarsal synostosis, Absent eyelashes, Kyphosis, Clef... ORPHA:85199
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Isotretinoin-Like Syndrome
Lymphopenia ORPHA:2306
Stickler Syndrome
Skeletal muscle atrophy, Slender build, Cachexia, Kyphosis, Sensorineural hearing impairment, Ost... ORPHA:828
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Kyphosis, Cryptorchidism, Rickets, Corn... OMIM:309000
Sarcoidosis
Hemolytic anemia, Alopecia, Hyperthyroidism, Parotitis, Eosinophilia, Facial palsy, Diabetes insi... ORPHA:797
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone conce... ORPHA:97287
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... ORPHA:69085
Rheumatoid Arthritis
Digital flexor tenosynovitis, Joint stiffness, Rheumatoid arthritis, Weight loss OMIM:180300
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Decreased fertility, Weight loss, Gonadal calcification... ORPHA:60025
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Optic disc pallor, Kyphosis, Splenomegaly, Flexion contracture... ORPHA:90324
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Microsporidiosis
Myositis, Osteomyelitis, Cachexia, Abnormality of the spleen, Myocarditis, Abnormality of the par... ORPHA:2552
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central a... OMIM:615577
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Branchiooculofacial Syndrome
Short neck, Premature graying of hair, Gastroesophageal reflux, Conductive hearing impairment, Sp... OMIM:113620
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... ORPHA:100080
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Platyspondyly, Uterine leiomyoma, Gastroe... OMIM:616482
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Loeys-Dietz Syndrome 2
Joint laxity, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Bicuspid pulmonary valve,... OMIM:610168
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Malignant Peritoneal Mesothelioma
Ileus, Weight loss ORPHA:168811
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, Cholelithiasis,... ORPHA:83617
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies... ORPHA:2769
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Joint hyperflexibilit... ORPHA:1974
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Sparse hair, Ename... OMIM:311200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia, Failure to thrive OMIM:210210
Localized Scleroderma
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Fasciitis, Flexion contracture, Myopath... ORPHA:90289
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97261
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Myocarditis, Thyroiditis, Weight loss, Lymphocytosis ORPHA:139402
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thr... ORPHA:79128
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Alg12-Cdg
Cryptorchidism, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Perry Syndrome
Weight loss ORPHA:178509
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... OMIM:223800
Inflammatory Pseudotumor Of The Liver
Weight loss, Neoplasm of the liver, Diabetes mellitus, Increased hepatitis B virus antibody level ORPHA:90003
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97278
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Vertigo, Weight loss, Hyperhidrosis, Chronic myelogenous le... ORPHA:71493
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, High, narrow palate, Synophrys, Abnormal curvature of the vertebral col... OMIM:619475
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Cardiac fibro... ORPHA:77301
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Monoclonal elevation of c... ORPHA:91139
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Highly arched eyebrow, Kyphosis, Rectal prolapse, Sensor... OMIM:303600
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Vertigo, Weight loss, Ga... ORPHA:679
African Trypanosomiasis
Hepatomegaly, Alopecia, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endo... ORPHA:3385
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join... OMIM:617821
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... ORPHA:100082
Biotinidase Deficiency
Splenomegaly, Alopecia, Hepatomegaly OMIM:253260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Sensorineural hearing impairment, Ragg... OMIM:258450
Chronic Graft Versus Host Disease
Alopecia, Pancytopenia, Phimosis, Esophageal stricture, Flexion contracture, Xerostomia, Weight l... ORPHA:99921
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis, Dystrophic fing... ORPHA:29207
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Behçet Disease
Myositis, Pericarditis, Orchitis, Splenomegaly, Endocarditis, Weight loss, Arthritis, Abnormal my... ORPHA:117
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... OMIM:271700
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, I... ORPHA:221
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Kyphosis, Synophrys, Scoliosis, Failure to thrive ORPHA:476126
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Oromandibular Dystonia
Torticollis, Weight loss, Dysphagia ORPHA:93958
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Aortic valve stenosis, Failure to thrive OMIM:300960
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Colchicine Poisoning
Alopecia, Myocarditis, Leukocytosis ORPHA:31824
Viss Syndrome
Generalized joint laxity, Right ventricular dilatation, Atrial septal defect, Patent foramen oval... OMIM:619472
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfu... ORPHA:411602
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, P... ORPHA:275761
Reynolds Syndrome
Splenomegaly, Lymphopenia OMIM:613471
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Optic neuropathy, Splenomegaly, Bone cyst, Enlarg... OMIM:181000
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Tarsal synostosis, Abnormal dental enamel morphology, Pancreatic cysts, R... ORPHA:2750
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Cole-Carpenter Syndrome
Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral ... ORPHA:2050
Riddle Syndrome
Weight loss, Decreased circulating total IgM, Arthritis, Chromosomal breakage induced by ionizing... ORPHA:420741
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level, Weight loss ORPHA:723
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal salivary gland morphology ORPHA:31
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail, Reduced bone mineral density ORPHA:428
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly ORPHA:134
Rett Syndrome, Congenital Variant
Kyphosis, Protruding ear, EEG abnormality, Gastroesophageal reflux, Scoliosis OMIM:613454
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Camptodactyly of... OMIM:601803
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Intestinal obstruction, Sensorineural hearing impairment, Prostatiti... ORPHA:900
Fryns-Smeets-Thiry Syndrome
Joint hyperflexibility, Cachexia, Scoliosis ORPHA:2058
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Optic atrophy, Cachexia, Hearing impairment ORPHA:220295
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Sensorineural hearing impairment,... ORPHA:649
Choreoacanthocytosis
Caudate atrophy, Protruding tongue, Peroneal muscle atrophy, Splenomegaly, Acanthocytosis, Abnorm... ORPHA:2388
Postinfectious Vasculitis
Orchitis, Weight loss, Cardiomyopathy, Arthritis, Bacterial endocarditis ORPHA:48435
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit ORPHA:91500
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Gerstmann-Straussler Disease
Cerebellar atrophy, Lower limb muscle weakness, Weight loss OMIM:137440
Relapsing Polychondritis
Abnormal endocardium morphology, Alopecia, Pericarditis, Myocarditis, Limitation of joint mobilit... ORPHA:728
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Yellow nails, Kyphosis, Tetralogy of Fallot, Cellulitis, Distichiasis OMIM:153400
Sotos Syndrome
Flexion contracture, Gastroesophageal reflux, Conductive hearing impairment, Chronic otitis media... ORPHA:821
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L... ORPHA:99826
Linear Nevus Sebaceus Syndrome
Alopecia, Vertebral segmentation defect, Adenoma sebaceum ORPHA:2612
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Sensorineural hearing impairment, Ragged-red muscle fibers... ORPHA:255210
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Absent fingernai... OMIM:305600
Ring Chromosome 13 Syndrome
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Short neck, Primary hypothyr... ORPHA:96176
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Optic atrophy, Lower limb hypertonia, Pont... ORPHA:171629
Cleidocranial Dysplasia 1
Increased bone mineral density, Hearing impairment, High, narrow palate, Kyphosis, Cleft palate, ... OMIM:119600
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... ORPHA:103918
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Liposarcoma
Weight loss ORPHA:69078
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Anoperineal fistula, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis ORPHA:158668
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Inflammation of the large intestine, Sacroiliac ... OMIM:106300
Vascular Ehlers-Danlos Syndrome
Alopecia, Inguinal hernia, Abnormal heart valve morphology, Hypospadias, Abnormality of hair text... ORPHA:286
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Leukopenia, Arthritis, Thrombocytopenia ORPHA:536
Caroli Disease
Cholangiocarcinoma, Splenomegaly, Leukocytosis, Esophageal varix, Weight loss, Cholelithiasis ORPHA:53035
Perry Syndrome
Weight loss OMIM:168605
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Biotinidase Deficiency
Alopecia, Limb muscle weakness ORPHA:79241
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Weight loss, Increased serum serotonin, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:100085
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Multiple lipomas, Patchy alop... OMIM:181270
Yunis-Varon Syndrome
Anterior concavity of thoracic vertebrae, Protruding ear, High palate, Absent fingernail, Small e... OMIM:216340
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Nocardiosis
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Thyroiditis, Endocarditis, Weight l... ORPHA:31204
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis, Cleft palate, Glossoptosis, Atresia of the external auditory canal, Con... ORPHA:1393
Behcet Syndrome
Epididymitis, Patchy alopecia, Arthritis, Genital ulcers OMIM:109650
Trichotillomania
Alopecia OMIM:613229
Malt Lymphoma
Abnormality of the thyroid gland, Anemia, Weight loss ORPHA:52417
Granulomatosis With Polyangiitis
Chronic otitis media, Granulomatosis, Weight loss OMIM:608710
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormality of the anterior pituit... ORPHA:449395
Klatskin Tumor
Hepatomegaly, Weight loss ORPHA:99978
Primary Fanconi Renotubular Syndrome
Osteomalacia, Weight loss, Increased susceptibility to fractures, Decreased circulating carnitine... ORPHA:3337
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... ORPHA:254886
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Weight loss ORPHA:100086
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Kyphosis, Gastroesophageal reflux, Scoliosis, Dysphagia, Achalasia,... OMIM:619482
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin... OMIM:300106
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal vestibular function, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Atrophy/De... ORPHA:70595
Spinocerebellar Ataxia With Epilepsy
Myopathy, Optic atrophy, EEG with occipital epileptiform discharges ORPHA:254881
Recessive Mitochondrial Ataxia Syndrome
Hashimoto thyroiditis, Dysphagia ORPHA:94125
Alpers-Huttenlocher Syndrome
ORPHA:726

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Polg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Polg.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Polg2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Polg2tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Polgtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Polgtm241349(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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