Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
growth factor receptor bound protein 2-associated protein 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Gab1 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 Gab1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 26
OMIM:605428

The table below shows human diseases predicted to be associated to Gab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Syngnathia
Cleft palate OMIM:119550
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Cleft pa... ORPHA:3181
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Hypertension,... ORPHA:563
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Placental Insufficiency
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... ORPHA:439167
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Glanzmann Thrombasthenia
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... ORPHA:849
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Short palpebral fissure, Dysplastic pulmonary... OMIM:612863
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Congenital Factor Xiii Deficiency
Joint hemorrhage, Persistent bleeding after trauma, Prolonged bleeding after dental extraction, S... ORPHA:331
Anencephaly 2
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood vessels... ORPHA:280779
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Purpura Simplex
Bruising susceptibility, Menorrhagia, Purpura, Epistaxis, Ptosis OMIM:179000
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding... OMIM:613235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Striae distensae, Bruising susceptibility OMIM:225310
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:314050
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Unroofed coronary sinus, Bundle branch block, Anomalous pulmonary ve... ORPHA:99104
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele, Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Macroglossia
Macroglossia OMIM:153630
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Velopharyngeal insufficiency OMIM:617732
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Pallor, Syncope, Epistaxis ORPHA:1959
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Congenital Sialidosis Type 2
Petechiae, Generalized hypertrichosis, Abnormal EKG, Edema, Umbilical hernia, Telangiectasia, Asc... ORPHA:93400
Gaucher Disease, Perinatal Lethal
Petechiae, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Purpura, Hyperkeratosis, De... OMIM:608013
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma OMIM:165600
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Bartsocas-Papas Syndrome 1
Sparse scalp hair, Intrauterine growth retardation, Ablepharon, Ectropion, Ankyloblepharon, Absen... OMIM:263650
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Ablepharon, Yellow subcutaneous tissue covered by thin, scaly sk... OMIM:256520
Barber-Say Syndrome
Ablepharon, Ectropion, Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Redundant skin, ... ORPHA:1231
Thrombocytopenia 5
Petechiae, Epistaxis, Bruising susceptibility OMIM:616216
Cryoglobulinemic Vasculitis
Petechiae, Cutis marmorata, Vasculitis, Purpura, Skin ulcer, Gastrointestinal hemorrhage, Keratoc... ORPHA:91138
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... OMIM:619110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... ORPHA:99828
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventr... OMIM:619705
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614009
Pseudo-Torch Syndrome 2
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Pleural effusion, Ascites, Fetal d... OMIM:617397
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Portal hypertension, Ascites, Epistaxis OMIM:619463
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Arthrogryposis mult... OMIM:201550
Sea-Blue Histiocytosis
Abnormal bleeding, Blepharitis, Petechiae, Edema ORPHA:158029
Neu-Laxova Syndrome 2
Ablepharon, Polyhydramnios, Edema, Spina bifida, Intrauterine growth retardation, Decreased fetal... OMIM:616038
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, Ectopic lacri... OMIM:167730
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Low anterior hairline, Small placenta, Congenital bilater... ORPHA:73272
Prolidase Deficiency
Petechiae, Diffuse telangiectasia, Facial hirsutism, Prolonged neonatal jaundice, Skin ulcer, Low... OMIM:170100
Oculocerebrocutaneous Syndrome
Orbital cyst, Orbital encephalocele, Alopecia, Eyelid coloboma OMIM:164180
Bernard-Soulier Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... ORPHA:274
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Preauricular hair displacement, Lower eyelid coloboma OMIM:618939
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Bleeding Disorder, Platelet-Type, 17
Petechiae, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding following procedure, Ec... OMIM:187900
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:253310
Snakebite Envenomation
Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hypotension... ORPHA:449285
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Acute Promyelocytic Leukemia
Petechiae, Bruising susceptibility, Abnormal bleeding, Oral cavity bleeding, Gingival bleeding, P... ORPHA:520
Tufted Angioma
Purpura, Hypertrichosis, Petechiae ORPHA:1063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Cutaneous Small Vessel Vasculitis
Urticaria, Cutis marmorata, Erythema, Vasculitis, Purpura ORPHA:889
Ablepharon Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Absent eyebrow, Sparse hair, Excessive wrinkled skin, Redundant skin... ORPHA:920
Burn-Mckeown Syndrome
Atrial septal defect, Short palpebral fissure, Ventricular septal defect, Lower eyelid coloboma, ... OMIM:608572
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Vasculitis, Purpura, Prolonged neonatal jaundice, Acrocyanosis, Cardiomyopathy OMIM:225750
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Prolonged bleeding after dental extraction, Menorrhagia, Ging... OMIM:153670
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... OMIM:231200
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Epistaxis, Persistent bleeding after trauma, Bruising susceptibility OMIM:300367
Pseudo-Torch Syndrome 1
Petechiae, Jaundice, Patent foramen ovale, Umbilical hernia OMIM:251290
Restrictive Dermopathy
Sparse hair, Sparse eyebrow, Short nail, Sparse or absent eyelashes, Downslanted palpebral fissur... ORPHA:1662
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Cleft palate, Arthrogryposis multiplex congenita OMIM:217150
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Lower limb amyotrophy, Foot dorsi... ORPHA:90103
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Primary Myelofibrosis
Petechiae, Abnormal bleeding, Pallor, Purpura, Ecchymosis, Portal hypertension ORPHA:824
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Helsmoortel-Van Der Aa Syndrome
Downslanted palpebral fissures, Narrow palpebral fissure, Eyelid coloboma, High anterior hairline... OMIM:615873
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Wiskott-Aldrich Syndrome
Blepharitis, Urticaria, Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary... ORPHA:906
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Pyoderma gang... ORPHA:49566
Oculotrichoanal Syndrome
Abnormal hair pattern, Cryptophthalmos, Nasolacrimal duct obstruction, Upper eyelid coloboma ORPHA:2717
Sepsis In Premature Infants
Petechiae, Abnormal bleeding, Pallor, Caesarian section, Tachycardia, Prenatal maternal abnormali... ORPHA:90051
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Acrofacial Dysostosis, Cincinnati Type
Downslanted palpebral fissures, Ablepharon, Upper eyelid coloboma, Lower eyelid coloboma OMIM:616462
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Petechiae, Epistaxis OMIM:612840
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Spina bifida occulta, Downslanted palpebral fissures, Eyelid coloboma, P... OMIM:268850
Meningococcal Meningitis
Shock, Purpura, Hypotension, Petechiae ORPHA:33475
Complement Component 4A Deficiency
Cutaneous photosensitivity, Purpura, Vasculitis OMIM:614380
Mandibulofacial Dysostosis With Alopecia
Alopecia, Bicuspid aortic valve, Lower eyelid coloboma, Sparse eyelashes OMIM:616367
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Alopecia, Limbal dermoid, Ventricular septal defect, Subvalvular aortic ste... OMIM:613001
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Griscelli Syndrome Type 2
Hypopigmentation of hair, Premature graying of hair, Petechiae, Jaundice ORPHA:79477
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Ablepharon-Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Absent eyebrow, Sparse hair, Redundant skin, Dry skin, Hypoplastic n... OMIM:200110
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
X-Linked Intellectual Disability, Seemanova Type
High palate, Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Alg9-Cdg
Hypertrichosis, Atrial septal defect, Tricuspid regurgitation, Thickened nuchal skin fold, Shallo... ORPHA:79328
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Ethmoidal encephalocele, Abnormal hair morphology, Eyelid coloboma OMIM:607597
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Orthostatic hypotension, Bruising susceptibility, Syncope OMIM:143850
Ehlers-Danlos Syndrome, Classic Type, 2
Epicanthus, Fragile skin, Bruising susceptibility OMIM:130010
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hypopigmentation of hair, Hematochezia, Gingival bleeding, Albinism, Ecc... OMIM:203300
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Bruising susceptibility, Purpura, Ecchymosis, Jaundice ORPHA:540
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis OMIM:602473
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Large pla... ORPHA:254534
Factors Viii, Ix And Xi, Combined Deficiency Of
Joint hemorrhage, Ecchymosis, Bruising susceptibility OMIM:134520
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Eyelid coloboma ORPHA:1104
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Fragile skin, Bruising susceptibility, Umbilical hernia OMIM:617174
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, High palate, Narrow mouth, Left ventricular hypertrophy, Facial... ORPHA:169186
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Urticaria, Petechiae, Vasculitis OMIM:603909
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Iga Nephropathy, Susceptibility To, 1
Hypertension, Purpura OMIM:161950
Bartsocas-Papas Syndrome
Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Popliteal pterygi... ORPHA:1234
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Boutonneuse Fever
Petechiae, Vasculitis ORPHA:83313
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Myocardial fibrosis, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Supernumerary nipple, Eyelid coloboma ORPHA:246
Fraser Syndrome 3
Cryptophthalmos, Hydrops fetalis OMIM:617667
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios, Intrauterine growth retardation ORPHA:397590
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes OMIM:613456
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae OMIM:605432
Fraser Syndrome 1
Abnormal heart morphology, Myelomeningocele, Extension of hair growth on temples to lateral eyebr... OMIM:219000
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Pulmonary edema, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrha... ORPHA:340
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Cutis marmorata,... ORPHA:183
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Poor wound healing, Bruising susceptibility OMIM:262800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis ORPHA:745
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair, Upper eyelid coloboma, Umbilical herni... ORPHA:2095
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Purpura, Gastrointestinal hemorrhage, Hypertension, Congestive heart failure ORPHA:85450
Complement Component 2 Deficiency
Purpura OMIM:217000
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Ptosis ORPHA:1784
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Carey-Fineman-Ziter Syndrome 1
High palate, Hypoplasia of the musculature, Flexion contracture, Cleft palate, Pectoralis hypopla... OMIM:254940
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Thin upper l... ORPHA:576283
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... OMIM:618779
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Pituitary Adenoma 4, Acth-Secreting
Hirsutism, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae distensa... OMIM:219090
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Stillbirth, Short palpebral fissure, Fetal akinesia sequence, Sh... OMIM:208150
Immunodeficiency 81
Petechiae OMIM:619374
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Albinism, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614075
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Jaun... ORPHA:99827
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Flexion contracture, Bifid uvula, Thick lower lip vermilion OMIM:618658
Mixed Connective Tissue Disease
Joint swelling, Alopecia, Xerostomia, Myocarditis, Pericarditis, Purpura, Gastrointestinal hemorr... ORPHA:809
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Cutis marmorata, Eyelid coloboma OMIM:157980
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Spontaneous chorioamniotic separation, Epidermal hyperkeratosis, Intr... OMIM:275210
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Pleural effusion, Su... ORPHA:464329
Jacobsen Syndrome
Atrial septal defect, Telecanthus, Epicanthus, Ventricular septal defect, Abnormal eyelash morpho... OMIM:147791
Mirage Syndrome
Intracranial hemorrhage, Petechiae, Intrauterine growth retardation OMIM:617053
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility OMIM:176630
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Long eyelashes, Epicanthus OMIM:615877
Simple Cryoglobulinemia
Vascular skin abnormality, Raynaud phenomenon, Vasculitis, Myocardial infarction, Purpura, Cold u... ORPHA:91139
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, High, narrow palate, Cleft palate OMIM:604841
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Woolly hair, Sparse hair, Brittle hair, Jaundice, Pulmonic steno... OMIM:222470
Livedoid Vasculopathy
Telangiectasia of the skin, Cutis marmorata, Macular purpura, Poor wound healing, Pedal edema, Ec... ORPHA:542643
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Limbal dermoid, Telecanthus, Abnormal conjunctiva morphology, Epicanthus... ORPHA:3339
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Short philtrum, Bifid uvula OMIM:616222
Walker-Warburg Syndrome
Cleft palate, Muscular dystrophy, Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Lissen... ORPHA:899
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Oculoectodermal Syndrome
Atrial septal defect, Supernumerary nipple, Limbal dermoid, Epicanthus, Lymphedema, Eyelid colobo... OMIM:600268
Limb-Mammary Syndrome
Hypodontia, Joint contracture of the hand, Cleft palate, Bifid uvula, Camptodactyly OMIM:603543
Thrombocytopenia 1
Joint hemorrhage, Petechiae, Epistaxis, Bruising susceptibility OMIM:313900
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Ecchymosis, Cardiomegaly, Abnormal heart morphology OMIM:114620
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Hypoplasia of the musculature, Persistence of primary teeth, Cl... OMIM:305620
Jacobsen Syndrome
Ectropion, Aortic valve stenosis, Hypoplastic left heart, Aplasia/Hypoplasia of the eyebrow, Down... ORPHA:2308
Passovoy Factor Defect
Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:168830
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Anti-Glomerular Basement Membrane Disease
Purpura, Vasculitis ORPHA:375
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Cutis marmorata, Eyelid coloboma ORPHA:2563
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Nager Syndrome
Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Sparse lower eyelashes, Lower ... ORPHA:245
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Dermatochalasis, Orthostatic hypotension, Arterial rupture, Umbilical h... ORPHA:287
Lujo Hemorrhagic Fever
Facial edema, Excessive bleeding after a venipuncture, Myocarditis, Hypotension, Shock, Purpura, ... ORPHA:319213
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Arterial rupture, Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Bleeding Disorder In Hemophilia A Carriers
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormal bleeding, Prolonged b... ORPHA:177926
Noonan Syndrome 4
Atrial septal defect, Sparse eyebrow, Bruising susceptibility, Abnormal bleeding, Pulmonic stenos... OMIM:610733
Oculocerebrocutaneous Syndrome
Alopecia, Eyelid coloboma, Ptosis ORPHA:1647
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Pai Syndrome
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele ORPHA:1993
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... OMIM:617412
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Premature rupture of membranes, Hirsutism, Gingival hyperkeratosis, Bruising susceptibility, Redu... OMIM:225410
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Sparse eyelashes, Tetralogy of Fallot, Epicanthus, Cranium bifidum occultum, Wido... ORPHA:306542
Craniofaciofrontodigital Syndrome
Hypertrichosis, Sacral hypertrichosis, Ventricular septal defect, Gastrointestinal hemorrhage, Ca... ORPHA:363705
Chikungunya
Joint swelling, Petechiae, Facial edema, Raynaud phenomenon, Abnormal bleeding, Erythema, Gingiva... ORPHA:324625
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Distal art... OMIM:114300
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Vasculitis, Purpura, Gastrointestinal hemorrhage, Acrocyanosis ORPHA:343
Thrombocytopenia 3
Petechiae, Epistaxis OMIM:273900
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Acrofacial Dysostosis 1, Nager Type
Urticaria, Tetralogy of Fallot, Downslanted palpebral fissures, Ventricular septal defect, Sparse... OMIM:154400
Waldenström Macroglobulinemia
Urticaria, Pallor, Cutis marmorata, Retinal hemorrhage, Vasculitis, Gingival bleeding, Pedal edem... ORPHA:33226
Treacher Collins Syndrome 1
Abnormal heart morphology, Upper eyelid coloboma, Downslanted palpebral fissures, Sparse lower ey... OMIM:154500
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Raynaud phenomenon, Cutis marmorata, Arrhinencephaly, Dry skin, Eyel... ORPHA:51
Viss Syndrome
Alopecia, Ventricular septal defect, Umbilical hernia, Double outlet right ventricle, Prominent s... OMIM:619472
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcino... ORPHA:231226
Neu-Laxova Syndrome
Cleft palate, Flexion contracture, Everted lower lip vermilion, Muscular dystrophy, Bifid uvula, ... ORPHA:2671
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... OMIM:239850
Amish Lethal Microcephaly
Spina bifida, Hepatomegaly, Cleft soft palate ORPHA:99742
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
3Mc Syndrome 2
Cleft upper lip, Diastasis recti, Torticollis, Hypoplasia of the musculature, Cleft palate, Downt... OMIM:265050
Native American Myopathy
High palate, Muscle fiber atrophy, Cleft palate, Submucous cleft soft palate, Bifid uvula, Abnorm... ORPHA:168572
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Incr... ORPHA:1041
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormality of the umbilical c... ORPHA:327
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Pulmonary edema, Congestive heart failure, My... OMIM:115197
Proboscis Lateralis
Abnormal eyebrow morphology, Unilateral narrow palpebral fissure, Abnormal morphology of bony orb... ORPHA:141099
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, High, narrow palate, Bifid uvula, Small hypothenar eminence, Plantar flexion contrac... ORPHA:2872
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Bruising susceptibility, Cutis laxa, Downsla... OMIM:208050
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Facial hypotonia, Smooth philtrum, Cleft soft palate OMIM:614526
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Glossoptosis, High, narrow palate, Hypodontia, Submucous cleft hard palate ORPHA:3201
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Eyelid coloboma OMIM:217100
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Menorrhagia, Spontaneous hematomas OMIM:616176
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Epicanthus, Narrow palpebral fissure, Umbilical hernia, Redundant neck skin, Intr... ORPHA:254528
Bacterial Toxic-Shock Syndrome
Tachycardia, Myocarditis, Hypotension, Shock, Ecchymosis, Edema, Scaling skin, Capillary leak ORPHA:36234
Beta-Thalassemia Major
Hypoplasia of the musculature, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatoc... ORPHA:231214
Frontofacionasal Dysplasia
Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Telecanthus, Cranium bifidu... OMIM:229400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Narrow mouth, Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscl... ORPHA:2463
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Atrial septal defect, Tricuspid regurgitation, Bruising susceptibility,... OMIM:601776
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Arrhythmia, Spina bifida occulta, Mitral valve prolapse, Gastrointestina... ORPHA:230839
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Eyelid coloboma ORPHA:268249
Hydrolethalus
Cleft palate, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Unilateral cleft lip, Su... ORPHA:2189
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:559
Noonan Syndrome 14
Sparse hair, Sparse eyebrow, Bruising susceptibility, Pulmonic stenosis, Dry skin, Downslanted pa... OMIM:619745
Fraser Syndrome
Myelomeningocele, Cryptophthalmos, Lacrimal duct aplasia, Abnormal hair pattern, Umbilical hernia... ORPHA:2052
Meckel Syndrome, Type 10
Cleft palate, Anencephaly, Malformation of the hepatic ductal plate, Bifid uvula, Occipital encep... OMIM:614175
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... ORPHA:2712
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Abnormal cardiac septum morphology, Mitral atresia, Telecanthus, Aortic regurgitation, Eyelid col... ORPHA:140952
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Prolonged bleeding following circumcision, Persistent bleeding ... ORPHA:169802
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Glanzmann Thrombasthenia 2
Bruising susceptibility, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhag... OMIM:619267
Wiskott-Aldrich Syndrome
Melena, Petechiae, Hematemesis, Gingival bleeding, Purpura, Large vessel vasculitis, Epistaxis, S... OMIM:301000
Noonan Syndrome 13
Hypertrichosis, Generalized hirsutism, Atrial septal defect, Bruising susceptibility, Mitral regu... OMIM:619087
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Hepatomegal... ORPHA:3473
Poliomyelitis
Paralytic ileus, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Lower limb m... ORPHA:2912
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Abnormality... OMIM:616331
Q Fever
Abnormal left ventricular function, Endocarditis, Myocarditis, Vasculitis, Purpura, Pleural effus... ORPHA:781
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Joint contracture of the hand, Hypodontia, Camptodactyly of fin... OMIM:612350
Cinca Syndrome
Urticaria, Purpura, Premature birth, Edema ORPHA:1451
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Menorrhagia, Bruising susceptibility OMIM:613554
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion OMIM:612292
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with min... ORPHA:169805
Sweeney-Cox Syndrome
Generalized hirsutism, Upper eyelid coloboma, Widow's peak OMIM:617746
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly, Ptosis ORPHA:2211
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Congenital Fiber-Type Disproportion Myopathy
High palate, Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexi... ORPHA:2020
Ehlers-Danlos Syndrome, Classic-Like, 2
Prematurely aged appearance, Bruising susceptibility, Thin eyebrow, Redundant skin, Poor wound he... OMIM:618000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Branchioskeletogenital Syndrome
Absent nipple, Periorbital wrinkles, Downslanted palpebral fissures, Telecanthus, Synophrys, Blep... ORPHA:1299
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Upper eyelid coloboma OMIM:603463
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Bruising susceptibility ORPHA:721
Immunoglobulin A Vasculitis
Urticaria, Vascular skin abnormality, Bruising susceptibility, Erythema, Vasculitis, Angioedema, ... ORPHA:761
Rin2 Syndrome
Sparse scalp hair, Hirsutism, Bruising susceptibility, Upper eyelid edema, Redundant skin, Downsl... ORPHA:217335
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Bifid uvula, Cleft palate OMIM:300958
Mosaic Trisomy 16
Abnormal heart morphology, Atrial septal defect, Premature birth, Preeclampsia, Maternal diabetes... ORPHA:1708
22Q11.2 Deletion Syndrome
Tricuspid atresia, Downslanted palpebral fissures, Ventricular septal defect, Umbilical hernia, G... ORPHA:567
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion, Supernumerary nipple, Eyelid coloboma OMIM:263750
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... OMIM:618622
Agel Amyloidosis
Sparse hair, Bruising susceptibility, Cutis laxa, Orthostatic hypotension due to autonomic dysfun... ORPHA:85448
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia ORPHA:75497
Relapsing Polychondritis
Alopecia, Abnormal aortic valve morphology, Erythema, Myocarditis, Purpura, Large vessel vasculit... ORPHA:728
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate OMIM:619314
Ehlers-Danlos Syndrome, Classic Type, 1
Bruising susceptibility, Premature birth following premature rupture of fetal membranes, Poor wou... OMIM:130000
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Hypopigmentation of hair, Gingival bleeding, Spontane... OMIM:614072
Treacher-Collins Syndrome
Low anterior hairline, Blepharospasm, Branchial fistula, Downslanted palpebral fissures, Absent e... ORPHA:861
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Congenital diaphragmatic hernia, Cleft palate OMIM:606164
Kasabach-Merritt Syndrome
Hypertrichosis, Purpura, Prolonged prothrombin time, Petechiae ORPHA:2330
Scalp-Ear-Nipple Syndrome
Sparse hair, Palpebral edema, Telecanthus, Breast aplasia, Eyelid coloboma, Hypertension ORPHA:2036
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Short philtrum, Bifid uvula, Pyloric stenosis ORPHA:96184
Shigellosis
Urticaria, Hypovolemic shock, Dehydration, Myocarditis, Purpura, Conjunctivitis ORPHA:810
Congenital Disorder Of Glycosylation, Type Id
High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Villous atrophy, Ar... OMIM:601110
Schilbach-Rott Syndrome
Narrow mouth, Bifid uvula, Submucous cleft hard palate OMIM:164220
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse, Bruising susceptibility OMIM:225320
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Aortic valve calcification, Poor wound healing, Mitral valve calcificatio... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... OMIM:618106
Cushing Disease
Sparse scalp hair, Hirsutism, Flushing, Bruising susceptibility, Poor wound healing, Plethora, My... ORPHA:96253
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Gastrointestinal hemorrhage, Bruising susceptibility OMIM:137560
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Cutis marmorata, Vasculitis, Purpura, Dilated cardiomyopathy, Portal hyperten... OMIM:615688
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula, Protruding tongue, U... OMIM:612938
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature, Umbilical hernia ORPHA:1101
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Thick eyebrow, Bruising susceptibility, Tricuspid regurgitation, Mitral reg... ORPHA:230851
Charge Syndrome
Abnormal cardiac septum morphology, Intrauterine growth retardation, Abnormal aortic valve morpho... ORPHA:138
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Interphalangeal joint contracture of finger, Joint contracture of ... ORPHA:1826
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Subcutaneous hemorrhage OMIM:618462
1Q41Q42 Microdeletion Syndrome
Thick vermilion border, Congenital diaphragmatic hernia, Cleft palate, Submucous cleft hard palate ORPHA:250999
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Myocardial infarction, Epistaxis, Prolon... OMIM:155100
Faundes-Banka Syndrome
Sparse scalp hair, Long palpebral fissure, Broad eyebrow, Hypoplasia of the lower eyelids, Downsl... OMIM:619376
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Esophageal varix, Umbilical hernia, Prolonged neonata... OMIM:301068
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... OMIM:614701
Granulomatosis With Polyangiitis
Angina pectoris, Recurrent intrapulmonary hemorrhage, Arrhythmia, Vasculitis, Cerebral ischemia, ... ORPHA:900
Microscopic Polyangiitis
Subcutaneous hemorrhage, Cutis marmorata, Arrhythmia, Erythema, Vasculitis, Skin ulcer, Gastroint... ORPHA:727
Kagami-Ogata Syndrome
Frontal hirsutism, Polyhydramnios, Blepharophimosis, Premature birth, Large placenta ORPHA:254519
Hemophilia A
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... ORPHA:98878
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Breech presentation, Bruising susceptibility OMIM:130060
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Macs Syndrome
Sparse hair, Sparse eyebrow, Bruising susceptibility, Alopecia, Cutis laxa, Redundant skin, Palpe... OMIM:613075
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Bruising susceptibility ORPHA:157965
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Long philtrum, Bifid uvula, Downturned corners of mouth, De... ORPHA:404440
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Poor wo... ORPHA:536545
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Bifid uvula, Delayed eruption of teeth, Spina bifida occulta, ... ORPHA:2780
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... OMIM:614921
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Bruising susceptibility, Poor wound healing, Arterial rupture, Dermal trans... OMIM:619115
Moebius Syndrome
Facial diplegia, High palate, Abnormality of the dentition, Bifid uvula, Congenital fibrosis of e... OMIM:157900
Pericardial Effusion, Chronic
Flushing, Pericardial effusion, Constrictive pericarditis OMIM:260900
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Myelofibrosis
Pallor, Purpura OMIM:254450
Diamond-Blackfan Anemia 6
Cleft upper lip, Bifid uvula, Cleft palate OMIM:612561
Cri-Du-Chat Syndrome
Diastasis recti, High palate, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Oral ... OMIM:123450
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... OMIM:306800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Bruising susceptibility, Downsl... OMIM:616914
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Bruising susceptibility, Pulmonic stenosis, Downs... OMIM:609942
Hemophilia A
Joint hemorrhage, Muscle hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:306700
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Amyoplasia, Flexion contracture, Cleft palate OMIM:312150
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Atrial septal defect, Sparse hair, Shallow orbits, Downsl... OMIM:268300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous c... OMIM:619103
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Bifid uvula, Submucous cleft hard palate OMIM:617660
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Bruising susceptibility... ORPHA:85443
Emanuel Syndrome
High palate, Multiple joint contractures, Anal atresia, Ectopic anus, Congenital diaphragmatic he... ORPHA:96170
Pallister W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Atrial septal defect, Short palpebral fissure, Cutis laxa, Hyper... ORPHA:96334
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Subcutaneous hemorrhage, Cutis marmorata, Purpura, Ascites, Intrauter... ORPHA:1556
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding time ORPHA:238459
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the eyebrow, Bruising susceptib... ORPHA:98791
Temple Syndrome
Bifid uvula ORPHA:254516
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Cleft palate, Submucous cleft hard palate OMIM:108300
Ehlers-Danlos Syndrome, Vascular Type
Bruising susceptibility, Hemothorax, Recurrent intrapulmonary hemorrhage, Fragile skin, Premature... OMIM:130050
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Bifid uvula... OMIM:615582
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Submucous cleft soft palate, Delayed eruption of teeth, Widely spaced t... ORPHA:1071
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Intrauterine growth retardation, Breech presentation, Occipit... OMIM:249000
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Submucous cleft hard palate ORPHA:178303
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:605735
Hermansky-Pudlak Syndrome
Bruising susceptibility, Abnormal bleeding, Hypopigmentation of hair, Long eyelashes, Hyperkerato... ORPHA:79430
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Delayed eruption of teeth, Bifid uvula, Cleft hard palate, Dental crowding, Thin up... OMIM:300990
Zika Virus Disease
Edema, Intrauterine growth retardation, Conjunctivitis, Subcutaneous hemorrhage ORPHA:448237
Branchiootorenal Syndrome 1
High palate, Cleft palate, Intestinal malrotation, Branchial fistula, Microdontia, Bifid uvula, I... OMIM:113650
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Sparse hair, Short nail, Short stature, Umbilical hernia, Scapular... OMIM:278250
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Premature rupture of membranes, Bruising susceptibility, Excessive wrinkled skin, Palmoplantar cu... OMIM:225400
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Excessive wrinkled skin, Lack of skin elasticity, Redundant skin, Downsl... OMIM:612940
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Short philtrum, Long philtrum, Bifid uvula, Downturned corners of mouth, Thin up... OMIM:619121
Postinfectious Vasculitis
Bacterial endocarditis, Vasculitis in the skin, Raynaud phenomenon, Cerebral vasculitis, Cutis ma... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Subcutaneous hemorrhage OMIM:603585
Greenberg Dysplasia
Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... OMIM:215140
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Cleft palate OMIM:253290
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Submucous cleft soft palate, Bifid uvula, Cleft lip, Cleft hard palate ORPHA:69085
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Bruising susceptibility, Hypovolemia, ... ORPHA:91387
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Gingival bleeding, Poor wound healing, Bruising susceptibility OMIM:130080
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Bruising susceptibility, Cutis laxa, Mitral regurgitation, Follicular hy... OMIM:614557
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Brucellosis
Transient ischemic attack, Endocarditis, Abnormal aortic valve morphology, Myocarditis, Pericardi... ORPHA:1304
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Myocardial infarction, Spontaneous, recurrent epistaxis, Pr... ORPHA:182050
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Cleft palate, Submucous cleft hard palate ORPHA:3426
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Myhre Syndrome
Narrow mouth, Cleft palate, Skeletal muscle hypertrophy, Thin vermilion border, Gingival cleft, B... ORPHA:2588
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Umbilical hernia, Open mouth, Pierre-Robin sequence, ... OMIM:192430
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Albinism, Epistaxis, Bruising susceptibility OMIM:614076
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Bruising susceptibility, Downslanted palpebral fissures, Mitral valve prol... OMIM:614816
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Purpura, Raynaud phenomenon OMIM:607944
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Albinism, Epistaxis OMIM:614073
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Purpura OMIM:235400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atresia, Submucous ... OMIM:619227
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Hirsutism, Flushing, Bruising susceptibility, Poor wound healing, Plethora, My... ORPHA:99889
Meckel Syndrome 12
Bifid uvula, Arthrogryposis multiplex congenita OMIM:616258
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:601709
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Bruising susceptibility, Alopecia, Redundant skin, Bilateral ptosis, Mi... ORPHA:536532
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Desmosterolosis
Narrow mouth, Cleft palate, Splenomegaly, Intestinal malrotation, Bifid uvula, Submucous cleft ha... ORPHA:35107
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Bruising susceptibility, Prolonged bleeding time OMIM:153640
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Pulmon... ORPHA:729
Marden-Walker Syndrome
Narrow mouth, Cleft palate, Muscular dystrophy, Camptodactyly of finger, Bifid uvula, Pyloric ste... ORPHA:2461
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Dental malocclusion, Hypodontia, Fragile teeth, Bifid uvula, Elevated h... ORPHA:2959
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Skeletal muscle atrophy OMIM:615802
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Bruising susceptibility, Alopecia, Fragile skin, Hypertension, Dorsocervical fat pad OMIM:615830
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... ORPHA:2250
Gaucher Disease Type 1
Bruising susceptibility, Gingival bleeding, Pedal edema, Abnormal myocardium morphology, Pulmonar... ORPHA:77259
Musculocontractural Ehlers-Danlos Syndrome
Bruising susceptibility, Subcutaneous hemorrhage, Abnormal bleeding, Redundant skin, Downslanted ... ORPHA:2953
Attenuated Chédiak-Higashi Syndrome
Skin ulcer, Gingival bleeding, Epistaxis, Bruising susceptibility ORPHA:352723
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, Dental crowding, Decreased muscle... OMIM:309583
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Thin upper lip vermilion, Submucous cleft hard palate ORPHA:457279
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Pallor, Intracranial hemorrhage, Lymphedema, Prolonged bleeding time ORPHA:3226
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Intrauterine growth retardation, Hypoplasia of eyelid OMIM:619321
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Poor wound healing, Arterial rupture, Bruising susceptibility OMIM:619120
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:1790
Primary Sjögren Syndrome
Raynaud phenomenon, Cutis marmorata, Xerostomia, Dry skin, Keratoconjunctivitis sicca, Vasculitis... ORPHA:289390
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia OMIM:263540
Hermansky-Pudlak Syndrome 11
Fair hair, Bruising susceptibility, Menorrhagia, Gingival bleeding, Albinism, Epistaxis OMIM:619172
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve, Bruising susceptibility OMIM:606408
White-Sutton Syndrome
High palate, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion border, Short philtrum... OMIM:616364
Chromosome 18Q Deletion Syndrome
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Short philtrum, Bifid uvula, Downtur... OMIM:601808
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Redundant skin, Polyhydramnios, Umbilical hernia, Hypertrophic cardiomy... ORPHA:116
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Long philtrum, Cleft soft palate ORPHA:2756
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Short philtrum, Bifid uvula, Downturned corners of mouth, Tented upper lip vermilion... ORPHA:247262
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate ORPHA:1427
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodontia, Long philtru... OMIM:608670
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Long philtrum, Bifid uvula OMIM:241410
Orofaciodigital Syndrome Type 4
Anal atresia, Abnormality of the tongue, High, narrow palate, Cleft palate, Abnormality of the gi... ORPHA:2753
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Open bite, Splenomegaly, Abnormality of the dentition, Deep phi... OMIM:115150
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Long philtrum, Delayed eruption of teeth, Bifid uvula, Car... OMIM:607812
Adiposis Dolorosa
Telangiectasia of the skin, Bruising susceptibility, Sparse axillary hair, Xerostomia, Sparse pub... ORPHA:36397
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Bruising susceptibility ORPHA:231401
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Bifid uvula, Spina bifida occulta, Lower lip pit, Fibrous syngnathia OMIM:119500
Meier-Gorlin Syndrome 5
Thick vermilion border, Long philtrum, Submucous cleft hard palate OMIM:613805
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Purpura, Small vessel vasculitis ORPHA:93126
Primary Pigmented Nodular Adrenocortical Disease
Hirsutism, Bruising susceptibility, Alopecia, Plethora, Striae distensae, Hypertension, Dorsocerv... ORPHA:189439
Contractural Arachnodactyly, Congenital
High palate, Hip contracture, Wrist flexion contracture, Congenital finger flexion contractures, ... OMIM:121050
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Smooth philtrum, Cleft soft palate ORPHA:293725
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Albinism, Epistaxis, Prolonged bleeding time OMIM:614074
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Albinism, Epistaxis OMIM:614077
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle weakness, Hand muscle weakness, Joint contracture of the hand, Hand muscle atroph... ORPHA:90658
Holoprosencephaly 3
Cleft lip, Solitary median maxillary central incisor, Bifid uvula, Cleft palate OMIM:142945
Megalocornea-Mental Retardation Syndrome
High palate, Long philtrum, Bifid uvula OMIM:249310
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Abnormal bleeding, Poor wound healing, Fragile skin, Mitral valve prolap... ORPHA:1900
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft upper lip, Anal atresia, Dental malocclusion, Joint contracture of the hand, C... OMIM:300373
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Bifid uvula, Cleft palate, Cervical myelopathy OMIM:183900
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Long... OMIM:154780
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Anemic pallor, Ventricular septal defect, Epicanthus, Intrauterine growt... OMIM:227645
Desbuquois Dysplasia 2
Hypodontia, Cleft palate, Long philtrum, Bifid uvula, Dental crowding OMIM:615777
Gray Platelet Syndrome
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged bleeding time OMIM:139090
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Shallow orbits, Coarse hair, Arterial rupture, Intrauterine growth retar... OMIM:612394
Common Variable Immunodeficiency
Purpura, Vasculitis ORPHA:1572
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Accessory oral frenulum, Hepatomegaly, Macroglossia, Hepatosplenomegaly,... OMIM:266920
Cerebrocostomandibular Syndrome
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Anal s... OMIM:117650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Macroglossia, Oligodontia, Bifid uvula, Downturned corners of mouth, F... ORPHA:453499
Frontometaphyseal Dysplasia 2
High palate, Hip contracture, Cleft palate, Short philtrum, Bifid uvula, Camptodactyly, Pyloric s... OMIM:617137
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome