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Gene: Pole4 MGI:1914229

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), epsilon 4 (p12 subunit)

Synonyms:

5830430F06Rik, 2400007P05Rik

Order Alleles

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 Pole4 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.

Human diseases associated with Pole4 (0 diseases)
Human diseases predicted to be associated with Pole4 (683 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pole4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 54	Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder, Short stature, Postnatal growth ...	OMIM:609981
Ataxia-Telangiectasia	Lymphopenia, Hypopigmentation of hair, Abnormality of chromosome stability, Ataxia, Short stature...	ORPHA:100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho...	ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Myelodysplasia, Abnormal thumb morphology, Anemia, Growth de...	OMIM:614082
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, ...	OMIM:209950
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ataxia, Short stature, Proximal placement of thumb, Dental malocclusion, Low...	OMIM:617883
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Scoliosis, Ataxia, Anemia	ORPHA:2802
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min...	OMIM:617052
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Short neck, Schwannoma, Synophrys, Clubbing, Hypochromi...	ORPHA:96123
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short stature, Short thumb, Cafe-au-lait spot, T-cell acute lymphoblastic...	OMIM:605724
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Hematolo...	ORPHA:824
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short neck, S...	OMIM:609053
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Atypical or prolonged he...	ORPHA:83471
Fanconi Anemia, Complementation Group C	Flexion contracture, Reticulocytopenia, Anterior wedging of T12, Neutropenia, Complete duplicatio...	OMIM:227645
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Duplication of thumb phalanx, Thrombocytopen...	OMIM:616435
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Recurrent si...	OMIM:619281
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Abnormality of chrom...	OMIM:600546
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion cont...	OMIM:604416
Fanconi Anemia, Complementation Group F	Sacral dimple, Hyperpigmentation of the skin, Decreased response to growth hormone stimulation te...	OMIM:603467
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly...	ORPHA:3004
Bloom Syndrome	Squamous cell carcinoma, Clinodactyly of the 5th finger, Hypopigmentation of the skin, Hepatic st...	OMIM:210900
Poems Syndrome	Sclerosis of hand bone, Sclerotic vertebral endplates, Hypothyroidism, Polycythemia, Sclerosis of...	ORPHA:2905
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Hypoplasia of penis, Micrognathi...	ORPHA:99812
N Syndrome	Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Spasticity, Neoplasm, Leukemia	OMIM:310465
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F...	OMIM:619644
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogon...	OMIM:300514
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypog...	OMIM:227650
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Ataxia, Short stature, Postnatal growth retardation, Lymphoma, Osteo...	OMIM:212750
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Failure to thrive, Follicular hyperplasia, Joint stiffness, Paratr...	OMIM:615934
Fanconi Anemia, Complementation Group D2	Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of skin pigmentation, Neutropenia, ...	OMIM:227646
Slc35A2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo...	ORPHA:356961
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperpigmentation of the...	OMIM:600901
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphobl...	ORPHA:486
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Mirage Syndrome	Adrenal hypoplasia, Leukopenia, Microphallus, Short stature, Hypospadias, Myelodysplasia, Cryptor...	OMIM:617053
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom...	ORPHA:84064
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Sparse hair, Hypothyroidism, Broad hallux, Shor...	OMIM:620186
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Short stature, Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Sho...	OMIM:619060
Immunodeficiency 24	Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i...	OMIM:615897
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb...	OMIM:105650
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay...	OMIM:614034
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen...	ORPHA:84
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Hepatomegaly, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:212065
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Bone marrow hypocellularity, Multiple cafe-au-lait spo...	OMIM:609054
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellulari...	OMIM:620133
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Trichohepatoenteric Syndrome 1	Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Hepatomegaly, Short...	OMIM:222470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Hydrocephalus...	OMIM:614083
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Hypoplasia ...	OMIM:613951
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Short neck, Low anterior hairline, Reticulocytopenia, Leukop...	ORPHA:124
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Chromosomal breakage induced by crosslinking agents, Hydrocephalu...	OMIM:617244
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Lymphoproliferative disorder, Portal hypertension, Splenomega...	OMIM:615688
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Icf Syndrome	Communicating hydrocephalus, Abnormality of chromosome stability, Short stature, Abnormality of n...	ORPHA:2268
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Unsteady gait, Impaired vibration sensation in the lowe...	OMIM:159550
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Neutrophilia, Ankle swelling, Myelodysplasia, Leukocyto...	ORPHA:3260
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, C...	OMIM:268130
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me...	OMIM:619652
Brucellosis	Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, L...	ORPHA:1304
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Growth delay, Iron deficiency anemia, Clubbing of fingers, Thrombocytosis...	OMIM:226300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow...	OMIM:617243
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopeni...	OMIM:619164
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, External genital hypoplasia, Large for gestational age, Micrognathia, Hypo...	ORPHA:96334
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Leukocytosis, Jaundice, Lipid accu...	ORPHA:20
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Microretrognathia, Rocker bottom foot, Intrauterine growth retardation, Hypop...	ORPHA:89844
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss...	ORPHA:337
Ataxia-Telangiectasia	Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor...	OMIM:208900
Fanconi Anemia, Complementation Group O	Chromosome breakage, Short stature, External genital hypoplasia, Proximal placement of thumb, Abs...	OMIM:613390
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Decreased body ...	OMIM:618097
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Short tibia, Unicoronal synostosis, Dandy-Wal...	OMIM:616300
Nijmegen Breakage Syndrome-Like Disorder	Ataxia, Short stature, Growth delay, Chromosomal breakage induced by ionizing radiation, Spasticity	OMIM:613078
Fanconi Anemia, Complementation Group N	Aplastic anemia, Nephroblastoma, Short neck, Postnatal growth retardation, Short thumb, Medullobl...	OMIM:610832
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Leukocytosis, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spast...	ORPHA:134
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho...	OMIM:118651
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Eosinophilia, Hy...	ORPHA:353298
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Generalized hyperpigmentation...	ORPHA:3322
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ...	ORPHA:71493
Griscelli Syndrome	Abnormality of neutrophils, White hair, Pedal edema, Premature graying of hair, Leukopenia, Iris ...	ORPHA:381
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegaly, Failure to thrive in infancy...	ORPHA:858
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Fragile X Syndrome	Macroorchidism, postpubertal, Pes planus, Mandibular prognathia, Joint laxity, Folate-dependent f...	OMIM:300624
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc...	OMIM:619924
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Short neck, Femoral bowing, Knee flexion contracture, Tibial bowin...	OMIM:601559
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative bur...	OMIM:226990
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Ventriculomegaly, Short stature, Joint stiffness, Postnatal grow...	OMIM:620210
Roifman Syndrome	Hepatomegaly, Short metacarpal, Hip contracture, Biconvex vertebral bodies, Eosinophilia, Short s...	OMIM:616651
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Microcytic anemia, Micrognathia, T l...	ORPHA:2959
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon...	OMIM:242900
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Facial capillary hemangi...	OMIM:274000
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Small for gestational age, Rhizomelia, Sandal gap, Small scrotum, Hyp...	OMIM:607143
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Lumbar hyperlordosis, Short stature, Hypermelanotic macule, Abnormal pri...	ORPHA:1830
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Arthritis, B lympho...	ORPHA:397596
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphoc...	ORPHA:277
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Orofaciodigital Syndrome Viii	Syndactyly, Short stature, Polydactyly, Short tibia, Hamartoma	OMIM:300484
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Hypothyroidism, Accessory ...	OMIM:620005
Doors Syndrome	Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Low anterior hairline, Capillary ...	ORPHA:79500
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Hypothyroid...	OMIM:301082
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei...	ORPHA:100024
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Small hand, Spasticity, Azoospermia, Gait di...	ORPHA:1445
Noonan Syndrome 12	11 pairs of ribs, Ventriculomegaly, Decreased response to growth hormone stimulation test, Proxim...	OMIM:618624
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Short Stature, Microcephaly, And Endocrine Dysfunction	Dysmetria, Sparse hair, Micropenis, Hypothyroidism, Ataxia, Short stature, Cryptorchidism, Gait d...	OMIM:616541
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Neutr...	OMIM:250250
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Vertebral...	OMIM:611209
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome ...	ORPHA:647
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Fragile X Syndrome	Mandibular prognathia, Pes planus, Joint laxity, Sinusitis, Folate-dependent fragile site at Xq28...	ORPHA:908
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, Overlapping fingers, T lymphocytopenia, B lymphocytopenia, Intraute...	OMIM:615966
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo...	OMIM:300400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Delayed skeleta...	OMIM:612447
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Short stature, Abnormality o...	ORPHA:229717
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5...	OMIM:210600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor...	ORPHA:93315
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Menorrh...	ORPHA:324636
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Short tibia, Humeroradial synostosis...	OMIM:251230
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Short stature, Myelodysplasia, Adrenal hyp...	OMIM:619151
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Joint laxity, Cerebellar vermis hypoplasia, Ataxia,...	ORPHA:251347
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai...	OMIM:127550
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Hypothyroidism, Autoimmune thrombocytopenia, Lymphadenopathy, Vitili...	OMIM:614700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Opi...	ORPHA:508533
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en...	ORPHA:1133
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A...	OMIM:614831
Ollier Disease	Chondrosarcoma, Micromelia, Joint stiffness, Precocious puberty, Visceral angiomatosis, Bone pain...	ORPHA:296
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Short stature, Splenomegaly, Jaundice, Patent ...	ORPHA:290
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finge...	ORPHA:915
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur...	ORPHA:53
Trichothiodystrophy	Osteopenia, Joint dislocation, Ridged nail, Multiple joint contractures, Brittle hair, Abnormal p...	ORPHA:33364
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,...	OMIM:214110
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations, Hypothyroidi...	OMIM:619851
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Natal tooth, Brittle hair, Short stature, Bilateral cryptorchidism, Carious teeth, H...	OMIM:616395
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Arthritis, Lymphocytosis, Anoperineal fist...	OMIM:301074
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Short stature, Avascular necrosis of the capital...	OMIM:613990
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Osteomyelitis, Short stature, Perianal abscess, Leukocytosis, ...	ORPHA:2968
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec...	OMIM:618048
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome...	OMIM:620076
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Pes planus, Persistent open anterior fontanelle, Cerebellar vermis hypo...	ORPHA:357058
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Leu...	ORPHA:1328
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Femoral-Facial Syndrome	Short femur, Short stature, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morp...	ORPHA:1988
Interstitial Lung And Liver Disease	Hepatomegaly, Hypothyroidism, Clubbing, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis,...	OMIM:615486
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Short stature, Absent thumb, Biliary atresia, Growth delay, Bone marrow hypo...	OMIM:615272
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon...	OMIM:606612
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Deep-set nails, Overlapping toe, Short stature, Micrognathia, Fibular hypoplasi...	OMIM:201170
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Meningioma	Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo...	ORPHA:2495
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Ata...	ORPHA:572798
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Impaired pain sensation, Limitation of joint mobility, Arthritis, Lymphopenia	ORPHA:2582
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p...	ORPHA:235
Immunodeficiency 36 With Lymphoproliferation	Short stature, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growt...	OMIM:616005
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious t...	ORPHA:377
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hydrocephalus, Osteopo...	ORPHA:2169
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Abnormal bone ossification, Clinodactyly of the 5th fi...	ORPHA:79324
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Intrauterine growth...	OMIM:194190
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Short stature, Anisocytosis, Anemia of inadequate prod...	OMIM:615631
Immunodeficiency 95	Lymphopenia	OMIM:619773
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Joint laxity, Cerebellar vermis hypoplasia, Hypospadias, Highly arched ...	OMIM:617751
Verheij Syndrome	Branchial cyst, Joint laxity, Vertebral fusion, Small for gestational age, Short stature, Short n...	OMIM:615583
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, I...	OMIM:257200
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Tremor, Leukocytosis, Chorea, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Sparse ha...	ORPHA:221008
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ...	OMIM:618150
Hemochromatosis, Type 3	Hyperpigmentation of the skin, Hypogonadotropic hypogonadism, Arthritis, Impotence, Cirrhosis, Ne...	OMIM:604250
Mevalonic Aciduria	Cerebellar atrophy, Normocytic hypoplastic anemia, Agenesis of cerebellar vermis, Ataxia, Failure...	OMIM:610377
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hypospadias, Malar prominence, Short neck, Micrognathia, Hyperlordosis, Kyphosis, ...	ORPHA:2522
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Ventriculomegaly, Cryptorchidism, P...	OMIM:603671
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, L...	ORPHA:39041
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Decreased skull ossificati...	OMIM:602361
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti...	OMIM:601457
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Anoperineal fistula, Hypochromic anemia, Thrombocytosis, Spastici...	OMIM:618213
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Sandwich appearance o...	OMIM:259700
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Short neck, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus a...	OMIM:608104
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neu...	ORPHA:221016
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Tremor, Abnormal pyramidal sign, Premature graying of hair, Sparse hair, Ataxia, Shor...	OMIM:612199
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Precocious puberty...	ORPHA:2637
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat...	OMIM:619054
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Felty Syndrome	Hepatomegaly, Sinusitis, Generalized hyperpigmentation, Splenomegaly, Abnormal joint morphology, ...	ORPHA:47612
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short stature, Abnormal hair pattern, Shor...	ORPHA:2332
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Sinusitis, Pure red cell aplasia, Autoimm...	OMIM:613179
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Neo...	ORPHA:1775
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, B lymphocytopen...	ORPHA:217390
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Hypertonia, Neutropenia, Joint contracture, Short sta...	OMIM:618460
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Abnormality of the ton...	ORPHA:47
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Intention tremor, Ataxia, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped ...	ORPHA:221139
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Short stature, Weight loss, Clumsiness, Arthritis, Chromosom...	ORPHA:420741
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Short neck, Splenome...	OMIM:606003
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hy...	OMIM:158350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Low anterior hairline, Leukopen...	OMIM:617303
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh...	OMIM:609945
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocyt...	OMIM:616084
Koolen-De Vries Syndrome	Positional foot deformity, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Pro...	OMIM:610443
Wilson Disease	Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Bone pain, H...	ORPHA:905
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Genital ulcers, Chorea, Polyarticular arthritis, Lymphopenia, Thrombocytopenia	OMIM:616744
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220200
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Squamous cell carcinoma, Reduced bone mineral density, Neutropenia, ...	ORPHA:2909
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Zaki Syndrome	Dilated fourth ventricle, Sparse scalp hair, Sacral dimple, Toe syndactyly, Cerebellar vermis hyp...	OMIM:619648
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hepatomegaly, Increased bone mine...	OMIM:259720
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Short ...	OMIM:617925
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Hand pol...	OMIM:258860
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Myelodysplasia, Thromb...	ORPHA:508542
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Partial absence of ce...	OMIM:220220
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s...	ORPHA:373
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame...	OMIM:258315
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Dandy-Walker...	OMIM:264090
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Pes planus, Ataxia, Short stature, Poor motor coord...	ORPHA:1170
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Hypoplastic thumbnail, Bifid distal phalanx of the thumb, Overweigh...	ORPHA:370010
Immunodeficiency 70	Plantar warts, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helpe...	OMIM:618969
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo...	ORPHA:3078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Premature...	OMIM:614742
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ...	ORPHA:543
Radial-Renal Syndrome	Absent radius, Chromosome breakage, Short stature, Absent thumb	OMIM:179280
Chediak-Higashi Syndrome	Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy...	OMIM:214500
Dyskeratosis Congenita, X-Linked	Ridged nail, Oropharyngeal squamous cell carcinoma, Reticulated skin pigmentation, Pterygium of n...	OMIM:305000
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Sparse hair...	OMIM:139210
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Stiff neck, Torticollis, Micrognathia, Short neck, Femor...	OMIM:617022
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,...	OMIM:249000
Lateral Meningocele Syndrome	Vertebral fusion, Short stature, Micrognathia, Short neck, Cryptorchidism, Patent ductus arterios...	OMIM:130720
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia, Hamartoma	OMIM:258865
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Glioma, Rhabdomyosarcoma, Micrognathia, Malar...	OMIM:251260
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equi...	OMIM:605274
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Cinca Syndrome	Eosinophilia, Leukocytosis, Patellar overgrowth, Lymphadenopathy, Hepatosplenomegaly, Arthritis, ...	OMIM:607115
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,...	OMIM:268310
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Hyper...	OMIM:602782
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormalit...	OMIM:216400
Moebius Syndrome	Micrognathia, Short neck, Lower limb undergrowth, Micropenis, Short phalanx of finger, Abnormalit...	OMIM:157900
Diamond-Blackfan Anemia 21	Micrognathia, Synophrys, Coarse hair, Short stature, Tapered finger, Short toe, Obesity, Anemia, ...	OMIM:620072
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Recurrent sinusitis, Transient neutropenia, Absent circulating B cells	OMIM:619707
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic hepatitis due to cryptosporidium in...	ORPHA:572
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Arachnodactyly, Abnormality of neutrophils, Short stature, Hydrocephalus, White hair, Ocu...	ORPHA:2720
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	OMIM:176270
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Lymphangiectasia, Intestinal	Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Mult...	OMIM:601186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Growth delay, Retrognathia, B lymphocytopenia	OMIM:614069
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L...	ORPHA:79477
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Proportionate short stature, Carious teeth, Delayed s...	OMIM:244460
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micro...	ORPHA:83617
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leuko...	ORPHA:98849
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth d...	OMIM:618541
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	ORPHA:85327
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Synophrys, 2-3 toe syndactyly, Sc...	ORPHA:391307
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hy...	ORPHA:567
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope...	ORPHA:911
Cyclic Neutropenia	Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent...	ORPHA:2686
Spinocerebellar Ataxia 2	Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:183090
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Short neck, Micropenis, Dandy-Walker malformation, Short stature, Hy...	OMIM:257300
Ellis Van Creveld Syndrome	Micromelia, Hypoplastic toenails, Epispadias, Conical incisor, Neonatal short-limb short stature,...	ORPHA:289
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Weight loss, Ce...	ORPHA:514
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ...	ORPHA:760
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Cerebellar vermis hypoplasia, Pancreatic fibrosis, Hamartoma of tongue, Prea...	OMIM:263520
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Fanconi Anemia, Complementation Group U	Chromosome breakage, Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the rad...	OMIM:617247
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Low anterior hairlin...	ORPHA:861
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ...	ORPHA:3035
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Fair hair, Hypospadias, Proportionate short stature, Hyperpigmented/hypopigmented m...	OMIM:620331
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, Growth delay, T lymphocytopenia, Decreased proporti...	OMIM:619510
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Speech apraxia, Penile freckling, Large for gestational age, Splenome...	OMIM:605309
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
H Syndrome	Microcytic anemia, Micropenis, Alopecia, Short stature, Delayed skeletal maturation, Hepatospleno...	ORPHA:168569
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy...	OMIM:304790
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Low posterior hairl...	ORPHA:2345
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Premature thelarche, Micrognathia, Bilateral crypto...	OMIM:180849
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope...	OMIM:616738
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Papilloma, Abnormality of the c...	ORPHA:464329
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Somatic sensory dysfunction, Brain neoplasm, Abnormal thorac...	ORPHA:370348
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va...	OMIM:617425
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon...	OMIM:615234
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract...	ORPHA:77259
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormalit...	OMIM:133540
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Short femur, Glandular hypospadias, Talipes equinovarus, Short tibia, Ventric...	OMIM:620306
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Micrognathia, Missing ribs, Abnormality of the spleen, Hy...	ORPHA:1834
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Sh...	ORPHA:96169
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Immunodeficiency 9	Failure to thrive, Hypoplasia of the thymus, Difficulty walking, Amelogenesis imperfecta	OMIM:612782
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Abnormal metatarsa...	ORPHA:85408
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Lymphoprolif...	ORPHA:276
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Akinesia, Micrognathia, Splenomegaly, Hepatosplenomegaly, Anemia,...	OMIM:608013
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen...	OMIM:619705
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym...	OMIM:618935
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th...	ORPHA:906
Sifrim-Hitz-Weiss Syndrome	Ambiguous genitalia, Short stature, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism...	OMIM:617159
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Small for gestational a...	ORPHA:99843
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski...	OMIM:164400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte...	OMIM:617021
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Patent ductus...	OMIM:617190
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy, Anemia, Leukopenia, H...	OMIM:267700
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Pachydermoperiostosis	Impaired temperature sensation, Bone pain, Avascular necrosis, Genu varum, Hepatomegaly, Abnormal...	ORPHA:2796
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Micrognathia, Hypoplasia of the pons, Kyphosis, Head titubation, Dysm...	OMIM:619708
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Rhabdomyoma, Plantar pits, Hemivertebrae, Cardiac fibroma, Vertebral fusio...	OMIM:109400
Noonan Syndrome 14	Pes planus, Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low ...	OMIM:619745
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short long bone, Vertebral segmentatio...	OMIM:618845
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Lower li...	ORPHA:2969
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Arachnodactyly, Ataxia, Short stature, Abnormal thumb morphology, Crypt...	ORPHA:2719
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S...	OMIM:613091
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Hepatosplenomegaly, Anem...	OMIM:603553
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Anemia, Premature graying of hai...	OMIM:620365
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Vici Syndrome	Failure to thrive, Cerebellar vermis hypoplasia, Hypopigmentation of hair, Micrognathia, Albinism...	OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Cerebellar hypoplasia, Nail dystrophy, Bone marrow hypo...	OMIM:615190
Trisomy 13	Displacement of the urethral meatus, Abnormal eyelash morphology, Cryptorchidism, Patent ductus a...	ORPHA:3378
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Sinusitis, Splenomegaly, Flexion contracture, Lymphadenopathy, A...	OMIM:617591
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Alopecia, Decreased response to growth hormone stimu...	ORPHA:293978
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Cerebellar hypoplasia, ...	OMIM:620208
Immunodeficiency 44	Lymphopenia	OMIM:616636
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia	OMIM:615771
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Short stature, Autoimmune t...	ORPHA:391487
Reni Syndrome	Ataxia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroid...	OMIM:617575
Sneddon Syndrome	Tremor, Lymphopenia, Hemiplegia, Impaired distal tactile sensation	OMIM:182410
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Failure to thrive, Ataxia, Eosinophilia, Abscess, ...	OMIM:615816
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Micrognathia, Short neck, Short metatarsal, Hepatic fibrosis, Clinodacty...	OMIM:266920
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Bone pain...	OMIM:230800
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hy...	OMIM:614175
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Low poster...	ORPHA:1803
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert...	ORPHA:66637
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Sinusitis, B lymphocytopenia	ORPHA:70593
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid...	ORPHA:1827
Neurofibromatosis Type 1	Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iridis, Spinal neurofibr...	ORPHA:636
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, 2-3 toe syndactyly, Lateral ventricle dilatation, Cl...	OMIM:613443
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, Talipes...	OMIM:619752
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:109150
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Calf mus...	ORPHA:370959
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Immunodeficiency 55	Absent natural killer cells, Short stature, Myelodysplasia, Postnatal growth retardation, Lymphad...	OMIM:617827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Micrognathia, T lymphocytopenia, Malar flattening, Failure to thrive, R...	OMIM:242860
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Chops Syndrome	Curly hair, Short stature, Thick hair, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, Sy...	OMIM:616368
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Lamb-Shaffer Syndrome	Ataxia, Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia,...	ORPHA:530983
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t...	ORPHA:198
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Dilated...	OMIM:304050
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of ...	OMIM:619488
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Spl...	OMIM:612852
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor...	ORPHA:79106
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Reticular hyperpigmentation, Premature graying of hair, Bone marrow...	OMIM:619767
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,...	ORPHA:169160
Alveolar Echinococcosis	Low back pain, Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cys...	ORPHA:284
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplas...	OMIM:269150
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,...	OMIM:244600
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel mo...	ORPHA:2916
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Missing r...	OMIM:613686
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Weight l...	ORPHA:90362
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Paralysis, Hepatosplenomegaly, Azoosperm...	ORPHA:2072
Pediatric Systemic Lupus Erythematosus	Alopecia, Lymphadenopathy, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Hemiplegia, ...	ORPHA:93552
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypospadias, Micrognathia, Bilateral cryptorchidism, Elbow flexion ...	OMIM:618156
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Omodysplasia 2	Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micrope...	OMIM:164745
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Abnormal hair quantity	ORPHA:1116
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B...	ORPHA:313892
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Recurrent sinusitis,...	OMIM:614868
Legionnaires Disease	Ataxia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphope...	ORPHA:549
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas...	ORPHA:300298
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v...	ORPHA:744
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar verm...	OMIM:243910
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ...	OMIM:171480
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Basal cell carcinoma...	OMIM:620040
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Pes planus, Short stature,...	ORPHA:163979
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl...	ORPHA:1452
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Short stature, Postnatal growth r...	OMIM:616113
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Short stature, Short neck, Pos...	ORPHA:168577
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Lon...	OMIM:615574
Caudal Regression Syndrome	Maternal diabetes, Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology,...	ORPHA:3027
Digeorge Syndrome	Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat...	OMIM:188400
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Lo...	OMIM:615846
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus,...	ORPHA:436252
Gapo Syndrome	Mandibular prognathia, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, Decreas...	ORPHA:2067
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Aqued...	OMIM:306955
Cousin Syndrome	Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior ...	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscl...	OMIM:607155
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Ventriculomegaly, Block verteb...	ORPHA:50
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He...	ORPHA:158048
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Flexion contracture, Sp...	OMIM:619306
Isotretinoin-Like Syndrome	Micrognathia, Postnatal growth retardation, Patent ductus arteriosus, Hydrocephalus, Intrauterine...	ORPHA:2306
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Spinal canal st...	ORPHA:1724
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Splenomegaly, Cervical lymphadenopat...	ORPHA:50918
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo...	OMIM:300755
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Vocal cord paralysis, Tibial bowing, Chiari type I malformation, Hypert...	ORPHA:798
Whim Syndrome	Sinusitis, Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordinati...	ORPHA:51636
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Camurati-Engelmann Disease	Mandibular prognathia, Waddling gait, Increased bone mineral density, Carious teeth, Lower limb p...	OMIM:131300
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Joint laxity, Sandal gap, Adrenal hypoplasia, Micrognathia, Growth ...	OMIM:613177
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th...	ORPHA:508498
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Recurrent fractures, Goiter, Br...	ORPHA:97290
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Short stature, Tarsal synostosis, Elbow contracture, Multiple ...	OMIM:178110
Harrod Syndrome	Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusion, Hypopigmented skin pa...	ORPHA:2115
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Chiari type I mal...	OMIM:101200
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Del...	ORPHA:93325
Gaucher Disease	Osteopenia, Joint dislocation, Tremor, Osteoarthritis, Bone pain, Abnormality of skin pigmentatio...	ORPHA:355
Robinow Syndrome	Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web...	ORPHA:97360
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizomelia, Sparse eyebrow, Ep...	OMIM:302960
Hennekam Syndrome	Benign neoplasm of the central nervous system, Finger syndactyly, Delayed eruption of teeth, Mild...	ORPHA:2136
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Neoplasm, Aplasia/Hypoplasi...	ORPHA:480880
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, R...	ORPHA:319487
Fusariosis	Brain abscess, Lung abscess, Sinusitis, Osteomyelitis, Hematological neoplasm, Abnormality of the...	ORPHA:228119
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Macrovesicular hepatic ste...	OMIM:616433
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph...	ORPHA:85450
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Pancreatic And Cerebellar Agenesis	Failure to thrive, Agenesis of cerebellar vermis, Diabetes mellitus, Joint stiffness, Flexion con...	OMIM:609069
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Split foot, Bicornuate uterus, U...	OMIM:200980
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Chorea, Leukopenia, Biliary cirrhosis, Lymphadenopat...	ORPHA:289390
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Low poster...	OMIM:616549
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the ve...	OMIM:166600
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepa...	OMIM:307200
Atelosteogenesis Type Iii	Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion,...	OMIM:617333
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Oste...	OMIM:222700
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Midface capillar...	OMIM:268300
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Orofaciodigital Syndrome Type 4	Joint dislocation, Micromelia, Micrognathia, Hypoplastic toenails, Aplasia/Hypoplasia of the tibi...	ORPHA:2753
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Flexion contra...	ORPHA:3042
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276244
Kbg Syndrome	Syndactyly, Vertebral fusion, Short stature, Short neck, Cryptorchidism, Delayed skeletal maturat...	OMIM:148050
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Mi...	OMIM:206900
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, B-cell lymphoma, Osteomalacia, Follicular h...	OMIM:619381
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma...	ORPHA:169105
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn...	ORPHA:667
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D...	OMIM:122600
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchi...	OMIM:617796
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Delayed skeleta...	ORPHA:77261
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:610688
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Microgna...	ORPHA:233
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Spasticity, Ventriculo...	ORPHA:171680
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Stiff neck, Dyses...	ORPHA:268882
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Short stature, Micrognathia, Hypoplasia of the pons, Postnatal growth r...	OMIM:300749
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal edema, Av...	ORPHA:96253
Acute Radiation Syndrome	Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm...	ORPHA:454831
Familial Congenital Mirror Movements	Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Fused ce...	ORPHA:238722
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Premature graying of hair, Sparse hair, Cl...	OMIM:113620
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypopl...	OMIM:261540
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Metatarsus add...	OMIM:227330
Campomelic Dysplasia	Micrognathia, Short neck, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,...	OMIM:309620
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Pop...	OMIM:119800
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Reduced bone mineral density, Fine hair, Long fibula, Ab...	ORPHA:935
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron con...	OMIM:619991
Generalized Pustular Psoriasis	Overweight, Leukocytosis, Obesity, Pedal edema, Arthritis, Lymphopenia, Abnormality of the nail	ORPHA:247353
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En...	OMIM:307800
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Delayed skele...	OMIM:601162
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Micrognathia, Congenital contracture, Talipes equinovarus	OMIM:619036
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Dental malocclusion, Diaphyseal sclerosis, Hepatospl...	OMIM:259730
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Gaisböck Syndrome	Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,...	ORPHA:90041
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Synophrys, Dandy-Walker malformation...	OMIM:619297
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ...	OMIM:276820
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, S...	OMIM:300373
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Low posterior hairline, Short neck	ORPHA:3456
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph...	ORPHA:444077
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral...	OMIM:214300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Failure to thrive	OMIM:601495
Fraser Syndrome 2	Short neck, Low anterior hairline, Cutaneous syndactyly, Hypoplasia of the thymus, Ambiguous geni...	OMIM:617666
Williams Syndrome	Osteopenia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Hypoplastic toenail...	ORPHA:904
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h...	OMIM:607323
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Dysesthesia, Orchitis, Jaundice, Neutrophilia in presenc...	ORPHA:99826
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Retrognathia, Low posterior hairline, Fused cervical vertebrae, Cafe-au-lait spot,...	OMIM:619227
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hypopigmentation of the skin, Hemolytic anemi...	ORPHA:797
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ...	OMIM:164900
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebra...	OMIM:118100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic ...	OMIM:208500
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped...	ORPHA:3144
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro...	OMIM:613458
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Small for gestational age, Sh...	OMIM:619869
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Sparse hair, Joint laxity, Hepatomegaly, Rhizomelia, Thin nail, Malformation of...	OMIM:218330
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of ...	ORPHA:434179
Truncus Arteriosus	Patent ductus arteriosus, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the ext...	ORPHA:3384
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vert...	ORPHA:1780
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Poor coordination, Ataxia	ORPHA:261183
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Absent external genitalia, Hemiverte...	OMIM:271520
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysi...	OMIM:157800
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi...	OMIM:203500
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ...	ORPHA:3404
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Bifid scrotum, Penoscrotal hypospadias, Hypospa...	OMIM:211380
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Tibial Hemimelia	Absent tibia	OMIM:275220
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Neoplasm, White forelock,...	OMIM:172800
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Congenital Ptosis	Prominent metopic ridge, Premature ovarian insufficiency, Piebaldism, Long eyelashes, Cafe-au-lai...	ORPHA:91411
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Patent ductus ...	OMIM:164210
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Adrenal calcification, Hepat...	ORPHA:51608

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 Pole4

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 Pole4.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Disrupted control of origin activation compromises genome integrity upon destabilization of Polε and dysfunction of the TRP53-CDKN1A/P21 axis.	Cell reports (May 2022)	Pole4^{tm1(KOMP)Vlcg}	35649380
Synthetic Lethality between DNA Polymerase Epsilon and RTEL1 in Metazoan DNA Replication.	Cell reports (May 2020)	Pole4^{tm1(KOMP)Vlcg}	PMC7262601
POLE3-POLE4 Is a Histone H3-H4 Chaperone that Maintains Chromatin Integrity during DNA Replication.	Molecular cell (September 2018)	Pole4^{tm1(KOMP)Vlcg}	PMC6179962
Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.	Molecular cell (May 2018)	Pole4^{tm1(KOMP)Vlcg}	PMC5972231

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MGI Allele	Allele Type	Produced
Pole4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pole4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pole4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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