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Gene: Trp73 MGI:1336991

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Gene Summary

Name:
transformation related protein 73
Synonyms:
deltaNp73,  TAp73,  p73

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Trp73em1(IMPC)H HET Early adult 2.99×10-05
increased blood urea nitrogen level Trp73em1(IMPC)H HET Early adult 3.70×10-05
thrombocytosis Trp73em1(IMPC)H HET Early adult 7.67×10-05
decreased spleen weight Trp73em1(IMPC)H HET Early adult 1.40×10-07
preweaning lethality, incomplete penetrance Trp73em1(IMPC)H HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Trp73 mutations

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

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

The table below shows human diseases associated to Trp73 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Bronchiectasis, Recurrent respiratory infections, Agenesis of corpus callosum OMIM:619466

The table below shows human diseases predicted to be associated to Trp73 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic... OMIM:613603
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci... OMIM:604416
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Decreased liver function, Volvulus, Edema, Failure to thrive, Long ... OMIM:618606
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Asp... OMIM:616430
Primary Ciliary Dyskinesia
Hearing impairment, Recurrent otitis media, Chronic otitis media, Male infertility, Recurrent myc... ORPHA:244
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Abnormal cornea morphology, Conductive hearing impairment, C... OMIM:244400
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Martsolf Syndrome 2
Cataract, Broad nasal tip, Lateral ventricle dilatation, Decreased body weight, Hypogonadotropic ... OMIM:619420
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Anteverted ... OMIM:613443
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Bulbous nose, Agenesis of corpus... OMIM:615219
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Lateral ventricl... OMIM:617751
Polyrrhinia
Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Abnormal na... ORPHA:141091
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Vomiting, Dilatation of the cerebral artery, T... ORPHA:284388
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Cach Syndrome
Cataract, Optic atrophy, Vomiting, Lateral ventricle dilatation, Oligohydramnios, Irritability, O... ORPHA:135
Thakker-Donnai Syndrome
Tetralogy of Fallot, Bulbous nose, Anteverted nares, Upslanted palpebral fissure, Agenesis of cor... ORPHA:1780
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dila... ORPHA:79243
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Slender build, Feeding difficulties, Pear-shaped nose... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Slender build, Feeding difficulties, Pear-shaped nose... ORPHA:363958
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Chronic constipation, Sensorineural hearin... ORPHA:544488
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Diarrhea, Hepatitis, Sepsis, Recurrent respiratory infectio... ORPHA:33110
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Chronic diarr... OMIM:142680
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Otit... OMIM:601457
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Cervical lymphadenopathy, Coombs-positive hemolytic... OMIM:614034
Glutamine Deficiency, Congenital
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted... OMIM:610015
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ... ORPHA:397596
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Eos... OMIM:243700
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Lateral ventricle dilatation, Bulbous nose, Long palpebral fissure, Patent ductus a... OMIM:618330
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Epicanthus, Long nose, Communicating hydrocephalus, Patent ductus arteriosus... ORPHA:2184
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Bainbridge-Ropers Syndrome
Low-set ears, Lateral ventricle dilatation, Micrognathia, Epicanthus, Tube feeding, High palate, ... OMIM:615485
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u... OMIM:617872
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Diarrhea, Recurrent viral infections, Otitis media, Recurrent sin... ORPHA:420741
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Icf Syndrome
Low-set ears, Depressed nasal bridge, Micrognathia, Communicating hydrocephalus, Malabsorption, P... ORPHA:2268
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Recurre... OMIM:619995
Zygomycosis
Diarrhea, Abnormal cranial nerve morphology, Ileitis, Pustule, Acute infectious pneumonia, Perior... ORPHA:73263
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Intellectual Developmental Disorder, Autosomal Dominant 56
Gastroesophageal reflux, Lateral ventricle dilatation, Upslanted palpebral fissure, Reduced socia... OMIM:617854
Chilton-Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Sensorineural hearing impairme... OMIM:619841
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Christianson Syndrome
Ventriculomegaly, Gastroesophageal reflux, Mandibular prognathia, Abnormality of the nose, Inappr... ORPHA:85278
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Alg2-Cdg
Wide nasal bridge, Cataract, Lateral ventricle dilatation, Downslanted palpebral fissures, Epican... ORPHA:79326
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive ... OMIM:607115
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Too... ORPHA:331235
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Adams-Oliver Syndrome 2
Low-set ears, Depressed nasal bridge, Optic atrophy, Lateral ventricle dilatation, Bulbous nose, ... OMIM:614219
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Depression, Lateral ventricle dilatation OMIM:615889
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve... ORPHA:2119
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Lateral ventricle dilatation OMIM:300982
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Congenital Syphilis
Diarrhea, Hearing impairment, Hyperplasia of the maxilla, Synovitis, Meningitis, High palate, Pur... ORPHA:499009
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Pontocerebellar Hypoplasia, Type 12
Polyhydramnios, Micrognathia, Lateral ventricle dilatation OMIM:618266
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Netherton Syndrome
Allergic rhinitis, Sparse eyebrow, Sepsis, Eczematoid dermatitis, Angioedema, Failure to thrive, ... OMIM:256500
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Diarrhea, Vomiting, Protein-losing enteropath... ORPHA:2070
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Mitral regurgitation, Sensorineural hearing impairment, Optic ... ORPHA:309282
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, High, narrow palate, Short palpebral fissure, Cupped ear, Lateral ventricle dilatat... OMIM:612863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Large earlobe, Upslanted palpeb... OMIM:615716
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Nausea and vomiting, Stroke, Su... ORPHA:97339
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Nasal congestion, Osteomyelitis, Invasive... ORPHA:1163
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Recurrent sinusitis, Chroni... OMIM:615482
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hyperparathyroidism, Transient Neonatal
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Ventriculomegal... OMIM:618188
Shprintzen-Goldberg Syndrome
Low-set ears, High, narrow palate, Ventriculomegaly, Gastroesophageal reflux, Conductive hearing ... ORPHA:2462
Chudley-Mccullough Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callo... OMIM:604213
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Sepsis, Failure to thrive, Malabsorption, Otitis media, Skin rash, Arthritis... ORPHA:229717
Felty Syndrome
Recurrent infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent ur... ORPHA:47612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Cataract, Flared nostrils, Dilated cardiomyopathy, Retrognathia, Moyamoya phenomeno... ORPHA:280679
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub... OMIM:618291
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Recurrent upper respiratory tract infections, Small for gestational age, Lateral v... ORPHA:3078
Proteus-Like Syndrome
Cataract, Mandibular prognathia, Downslanted palpebral fissures, Anteverted nares, Abnormal pupil... ORPHA:2969
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Periodontitis, Recurrent viral infections, Pharyngitis, Recurrent aphthous s... ORPHA:486
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Skin rash, Glossitis, Intraventricular hemorrhage, Cleft palate, Recurrent inf... ORPHA:79284
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Sensorineural hearing impairment, Cachexia, Weight loss, Abdominal distention, Abdomina... ORPHA:298
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Lateral ventricle dilatation, Nasogastric tube feeding, Failure to thrive... ORPHA:284417
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Inflammation of the large intestine, Delayed onset bleeding, Prolon... ORPHA:331
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight ORPHA:324422
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Trichinellosis
Facial edema, Periorbital edema, Central retinal artery occlusion, Skin rash, Abnormal cerebrospi... ORPHA:863
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Recurrent upper respiratory ... ORPHA:277
Lissencephaly 4
Wide nasal bridge, Colpocephaly, Feeding difficulties, Agenesis of corpus callosum OMIM:614019
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Feeding difficulties in infancy, Dysphagia, Degeneration of anterio... OMIM:607596
Meige Disease
Pleural effusion, Angiosarcoma ORPHA:90186
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Diarrhea, Pedal edema, Depression, Malabsorption, Infec... ORPHA:3452
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexia, Anorexia, Abdominal pain... ORPHA:2552
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Wells Syndrome
Eosinophilia ORPHA:901
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Reduced sperm motility, Infertility, Recur... OMIM:615500
Zika Virus Disease
Myelitis, Vomiting, Subcutaneous hemorrhage, Skin rash, Transient hearing impairment, Infectious ... ORPHA:448237
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhage, Communicating hy... ORPHA:25
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation ORPHA:306669
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Hearing... ORPHA:207
Paroxysmal Hemicrania
Nausea and vomiting, Focal sensory seizure with olfactory features, Conjunctival hyperemia, Ptosi... ORPHA:157835
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... OMIM:610755
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin ras... ORPHA:47
Nasolacrimal Duct Cyst
Red eye, Periorbital edema, Nasal congestion, Chronic irritative conjunctivitis, Dacryocystocele,... ORPHA:141083
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Infra-orbital... OMIM:603165
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:240500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Abno... ORPHA:54595
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Otitis media, Recurrent bacterial meningitis, Recurrent bacterial upper respir... ORPHA:70593
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Decreased body weight, Cerebral edema, Hig... OMIM:620371
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Microretrognathia, Abnormal bleeding, Anteverted nares, Hydrocephalu... OMIM:300884
Bloom Syndrome
Neoplasm of the colon, Micrognathia, Severe toxoplasmosis, Stomach cancer, Sparse eyelashes, Tela... ORPHA:125
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Diencephalic Syndrome
Optic atrophy, Decreased body weight, Cachexia, Hydrocephalus, Macrotia ORPHA:1672
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Depressed nasal bridge, Aniridia, Telecanthus, Anteverted nares, Micrognathia, Corneal opacity, C... ORPHA:1064
Mcdonough Syndrome
Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Low-set, posteriorly rot... ORPHA:2471
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Abnormal upper motor neuron morphology, Euphoria, Lateral ventricle dilat... OMIM:221770
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Lujo Hemorrhagic Fever
Diarrhea, Excessive bleeding after a venipuncture, Periorbital edema, Cerebral edema, Dysphagia, ... ORPHA:319213
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pharyngitis, Abnormal nasopharyngeal adenoid morphol... ORPHA:3392
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Intestinal pseudo-... ORPHA:85446
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis OMIM:615481
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Recur... OMIM:613502
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Low-set, posteriorly rotated ears, Bulbous nose, Micrognathia, Communicating h... ORPHA:1237
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Depressed nasal bridge, Lateral ventricle dilatation, Downslanted palpebral fissures, B... OMIM:614105
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Ventriculomegaly, Downslanted palpebral fissures, Low-set, posteriorly rotated ea... ORPHA:457359
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Prominent supraorbital ridges, Agenesis of corpus callosum, Conjunctival hyperemia,... OMIM:619548
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Joubert Syndrome 3
Low-set ears, Highly arched eyebrow, Wide nasal bridge, Enlarged fossa interpeduncularis, Lateral... OMIM:608629
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Hearing impairment, Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Ga... OMIM:613662
Scedosporiosis
Pneumonia, Unusual CNS infection, Abnormal jejunum morphology, Unusual skin infection, Sepsis, In... ORPHA:449280
American Trypanosomiasis
Periorbital edema, Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Infectious ence... ORPHA:3386
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Depression, Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Emo... ORPHA:136
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal nerve conduction velocity, Depression, Hearin... ORPHA:93473
Ménétrier Disease
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Malnutrition, Stomach c... ORPHA:2494
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Pineocytoma
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus, Nausea and vomiting ORPHA:251912
Ciliary Dyskinesia, Primary, 40
Azoospermia, Congenitally corrected transposition of the great arteries, Right aortic arch, Chron... OMIM:618300
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Infertility, Rhinitis, Chronic ... OMIM:618063
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Lateral ventricle dilatation, Broad columella, Retrognathia, Thick nasal ala... ORPHA:293725
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Alexander Disease Type I
Vomiting, Failure to thrive, Cachexia, Hydrocephalus, Dysphagia ORPHA:363717
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Recurrent otitis media, Recurrent bronchitis,... OMIM:616726
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Communicating hydrocephalus, Developmental cataract OMIM:600559
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, Depressed nasal bridge, Dilated... OMIM:619575
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Lymphedema, Hypoplasia of lymphatic ves... ORPHA:662
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, R... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Ascites, Pleural effusion, Petechiae, Bradycardia... OMIM:617397
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Microphthalmia-Brain Atrophy Syndrome
Vomiting, Lateral ventricle dilatation ORPHA:77299
Immunodeficiency 46
Sepsis, Failure to thrive, Recurrent sinopulmonary infections, Meningitis, Conjunctivitis, Chroni... OMIM:616740
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Subependymal cysts, Micrognat... OMIM:600721
Glanzmann Thrombasthenia
Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci... ORPHA:849
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili... ORPHA:411696
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu... OMIM:613493
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Communicating hydrocephalus, Conductive hearing impairment ORPHA:1861
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Infertility, Recurrent respiratory i... OMIM:616481
Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Sensorineural hearing impairment, Prostatitis, Arrhy... ORPHA:900
Paganini-Miozzo Syndrome
Low-set ears, Mandibular prognathia, Lateral ventricle dilatation, Downslanted palpebral fissures... OMIM:301025
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Sensorineural hearing impairment, Epicanthus, Pulmonary lymphangiectasia, Periorbit... OMIM:235510
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Gastrostomy tube feeding in infancy, Lateral ventricle dilatation, Poor suck, Optic nerve hypoplasia OMIM:618890
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Distal Deletion 10Q
Low-set ears, Lateral ventricle dilatation, Micrognathia, Epicanthus, Anal atresia, High palate, ... ORPHA:96148
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent... OMIM:607594
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Bulbous nose, Sensorineural hear... ORPHA:2185
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep... ORPHA:99828
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Chronic sinusitis, Recurrent sinusitis, Chr... OMIM:301082
Gabriele-De Vries Syndrome
Low-set ears, Aortopulmonary collateral arteries, Sparse eyebrow, Broad nasal tip, Lateral ventri... OMIM:617557
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Pleural effusion, Constrictive pericar... OMIM:602248
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility... OMIM:612650
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Retinal vascular malformation, Iris hypopigmentation, Arteriovenous... ORPHA:53719
Riboflavin Transporter Deficiency
Iris hypopigmentation, Progressive hearing impairment, Hypogonadism, Abnormal cranial nerve morph... ORPHA:97229
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage ORPHA:401986
Liposarcoma
Sarcoma ORPHA:69078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Non-Functioning Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Cranial nerve compres... ORPHA:94080
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:615451
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Weight loss, Tubulointerstitial nephritis, Abdominal... ORPHA:183
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Male infertility, Chronic rhinitis OMIM:618801
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic infection, Recur... ORPHA:83471
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Vomiting, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemi... ORPHA:90065
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Lateral ventricle dilatation OMIM:619972
Malan Overgrowth Syndrome
Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Downslanted palpebral fis... ORPHA:420179
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Downslanted palpebral fissures, Agenesis of corpus callosum, Ptosis... OMIM:618736
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts OMIM:618999
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Wide nasal bridge, Decreased liver function, Neonatal death, Colpocephaly, Feeding ... OMIM:614870
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Recurrent bronchitis, Otitis media, Chronic sinusitis, Recurre... OMIM:300455
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Recurrent respiratory infections, Bronchie... OMIM:615505
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male... OMIM:617091
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Rhinitis, Male infertility OMIM:614874
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Arrhythmia, Wide nose, Decreased nerve conduction velocity, Cor... ORPHA:580
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Feeding difficulties OMIM:617668
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hearing impairment, Micrognathia, High palate, Short nose, Cataract, Gastroesophageal reflux, Lon... OMIM:619833
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis OMIM:614017
Renpenning Syndrome
High, narrow palate, Cataract, Mandibular prognathia, Broad columella, Thin eyebrow, Prominent no... ORPHA:3242
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Recurrent respiratory inf... OMIM:614935
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Reduced sperm motility, I... OMIM:615444
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Periodontitis, Hearing impairment ORPHA:1008
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Angioedema, Hereditary, 8
Facial edema, Diarrhea, Angioedema, Laryngeal edema, Edema of the dorsum of hands, Episodic vomit... OMIM:619367
Atypical Teratoid Rhabdoid Tumor
Nausea and vomiting, Hydrocephalus, Irritability ORPHA:99966
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Bilateral Generalized Polymicrogyria
Gastroesophageal reflux, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, Nasogastric tub... ORPHA:208447
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Tenorio Syndrome
Recurrent pneumonia, Gastroesophageal reflux, Ventriculomegaly, Recurrent aphthous stomatitis, Te... OMIM:616260
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Hearing impairme... ORPHA:33226
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas... OMIM:619652
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Orbital craniosynostosis, Micrognathia, Shallow orbits, Hydrocephalus,... OMIM:112240
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Low-set ears, Sparse eyebrow, Ventriculomegaly, Mandibular prognathia, Downslanted palpebral fiss... OMIM:617011
Aicardi-Goutieres Syndrome 9
Optic atrophy, Lateral ventricle dilatation, Edema, Recurrent urinary tract infections, Ascites, ... OMIM:619487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Low-set ears, Downslanted palpebral fissures, Failure to thrive in infancy, Bulbous nose, Promine... OMIM:616801
Microscopic Polyangiitis
Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Congestive heart failure, ... ORPHA:727
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Lassa Fever
Facial edema, Menometrorrhagia, Diarrhea, Abnormal bleeding, Hearing impairment, Sepsis, Pharyngi... ORPHA:99824
Fragile X Syndrome
Gastroesophageal reflux, Otitis media, Irritability, Protruding ear, Sinusitis, Mandibular progna... ORPHA:908
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Ovarian Fibrothecoma
Abnormality of the ovary, Pleural effusion, Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Joubert Syndrome 14
Low-set ears, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Prominent nas... OMIM:614424
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Optic nerve hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fissure... ORPHA:300570
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Lacrimal Duct Defect
Lacrimal duct atresia, Dacryocystocele, Sinusitis, Periorbital edema, Conjunctivitis, Dacryocystitis OMIM:149700
H Syndrome
Hearing impairment, Hypogonadism, Abnormal eyebrow morphology, Upper eyelid edema, Psoriasiform d... ORPHA:168569
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Tachycardia, Meningitis, Recurrent skin infections, Abdominal pain,... ORPHA:36234
Degcags Syndrome
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Feeding difficulties, Micrognathia, ... OMIM:619488
Mirage Syndrome
Gastroesophageal reflux, Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Petech... OMIM:617053
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Noonan Syndrome 14
Low-set ears, Aortic regurgitation, Sparse eyebrow, High, narrow palate, Bruising susceptibility,... OMIM:619745
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Cataract, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrog... OMIM:300845
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Sepsis, ... OMIM:614700
Spermatogenic Failure 17
Male infertility OMIM:617214
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility, Recurrent respiratory infections, ... OMIM:612649
Solar Urticaria
Angioedema, Abnormal tongue morphology, Syncope, Periorbital edema, Nausea, Edema ORPHA:97230
1Q21.1 Microduplication Syndrome
Cataract, Gastroesophageal reflux, Failure to thrive, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Proteasome-Associated Autoinflammatory Syndrome 2
Periorbital edema, Recurrent viral infections, Failure to thrive, Neutrophilic infiltration of th... OMIM:618048
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum,... ORPHA:464738
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Pneumonia, Depressed nasal bridge, Diarrhea, Failure to thrive, Anteverted nares, M... OMIM:242860
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Poikiloderma With Neutropenia
Depressed nasal bridge, Recurrent pneumonia, Sparse eyebrow, Carious teeth, Sparse lateral eyebro... OMIM:604173
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Increased CSF lactate, Neonatal death, Intraventricular hemorrhage, Prolonged ... OMIM:619055
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Ventriculomegaly, Periodontitis, Hydroce... OMIM:217090
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Sensorineural hearing impairment, Corneal opa... ORPHA:93476
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Bruising susceptibility, Fasciitis, Skin ras... ORPHA:32960
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Ascites, Episcleritis, Skin rash, Nausea and vomiting, Sensorineural hearin... ORPHA:36412
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Sensorineural hearing impairment, Polyhydramnios, Tube feeding, Dys... OMIM:619847
Prader-Willi Syndrome Due To Translocation
Carious teeth, Lateral ventricle dilatation, Micrognathia, Feeding difficulties in infancy, High ... ORPHA:177907
Emanuel Syndrome
Low-set ears, Aortic valve stenosis, Hearing impairment, Recurrent otitis media, Feeding difficul... ORPHA:96170
Alg12-Cdg
Micrognathia, Sensorineural hearing impairment, Epicanthus, Recurrent pharyngitis, Patent ductus ... ORPHA:79324
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Low-set ears, Depressed nasal bridge, Sparse eyebrow, Lateral ventricle dilatation, Downslanted p... OMIM:620075
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Narrow palate, Gastroesophageal reflux, Decreased motor nerve conduction velocity, ... OMIM:618186
Cerebral Cavernous Malformations
Retinal vascular malformation, Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Meningitis, Purpura, Chronic ... ORPHA:906
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Increased CSF lactate, Cachexia, Weight loss, Feeding diff... OMIM:612075
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Idiopathic Bronchiectasis
Bronchiectasis, Recurrent Haemophilus influenzae infections, Cachexia, Acute infectious pneumonia... ORPHA:60033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Gastroesophageal reflux, Carious teeth, Lateral ventricle dilatation, Yellow-br... OMIM:619229
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Lateral ventricle dilatation, Dow... OMIM:611209
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Abeta Amyloidosis, Iowa Type
Stroke, Dysphagia, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Leishmaniasis
Rhinitis, Weight loss, Abnormal bleeding, Anorexia ORPHA:507
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Mitral regurgitation, E... OMIM:615873
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Sensorineural hearing impairment, Ptos... OMIM:616602
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Delayed early-childhood social milestone ... OMIM:619302
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Thrombocytosi... OMIM:226300
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Gastrostomy ... ORPHA:141152
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Gastroesophageal reflux, Dilated third ve... ORPHA:397715
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Esophagitis, Sensorineural hearing impairment, Lac... ORPHA:443811
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Carboxypeptidase N Deficiency
Allergic rhinitis, Angioedema OMIM:212070
Spermatogenic Failure 52