Not currently registered for phenotyping at IMPC

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

Gene Summary

growth factor receptor bound protein 2-associated protein 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Deafness, Autosomal Recessive 26

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

Disease Similarity of
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Cleft palate OMIM:119550
Sprengel Deformity
Cleft palate, Shoulder muscle hypoplasia, Torticollis, Abnormality of the shoulder girdle muscula... ORPHA:3181
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Abnormal umbilical cord blood vessel morphology, Ab... ORPHA:439167
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Short palpebral fissure, Medial flaring of the eyebrow, Hooded eyel... OMIM:612863
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels... ORPHA:280779
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Abnormal umbilical stump bleeding, Ecchymosis, Bruising susceptibility, Prolon... OMIM:613235
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
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Prolonged bleeding after dental extraction, Post-partum hemorrhage, Oral c... ORPHA:331
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Bruising susceptibility, Striae distensae, Mitral valve prolapse OMIM:225310
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Cephalohematoma, Purpura, Melena, Abnormal bl... ORPHA:853
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Ecchymosis, Epistaxis, Persistent bleeding after trauma, Bruising susceptibili... OMIM:609821
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Cyanosis, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Trans... ORPHA:99104
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma, Encephalocele ORPHA:398156
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Facial palsy OMIM:617732
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Evans Syndrome
Jaundice, Petechiae, Epistaxis, Syncope, Bruising susceptibility, Pallor ORPHA:1959
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Macroglossia OMIM:153630
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal mitral valve morphology, Meno... ORPHA:903
Hemophilia A
Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ... OMIM:306700
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Bartsocas-Papas Syndrome 1
Ectropion, Axillary pterygium, Popliteal pterygium, Cicatricial lagophthalmos, Pterygium, Absent ... OMIM:263650
Immune Dysregulation, Autoimmunity, And Autoinflammation
Petechiae, Ecchymosis, Epistaxis, Gingival bleeding OMIM:620514
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Telecanthus, Breast aplasia, Redundant skin, Hypoplastic n... ORPHA:1231
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Congenital Sialidosis Type 2
Petechiae, Generalized hypertrichosis, Ascites, Abnormal heart morphology, Umbilical hernia, Edem... ORPHA:93400
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Petechiae, Hyperkeratosis, Ascites, Premature birth, Nonimmune hydrops f... OMIM:608013
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... OMIM:619705
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Pseudo-Torch Syndrome 2
Fetal distress, Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect,... OMIM:617397
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ascites, Portal hypertension, Ecchymosis, Epistaxis OMIM:619463
Bleeding Disorder, Platelet-Type, 11
Menorrhagia, Ecchymosis, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:614201
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Sparse eyebrow, Absent lacrimal punct... OMIM:167730
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Purpura, Skin ulcer, Petechiae, Vasculitis, Cutis marmorata, Keratoc... ORPHA:91138
Prolidase Deficiency
Diffuse telangiectasia, Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Ptosis, ... OMIM:170100
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Transposition of the great arteries, Small placenta, Polyhydram... OMIM:256520
Neu-Laxova Syndrome 2
Polyhydramnios, Ablepharon, Spina bifida, Decreased fetal movement, Intrauterine growth retardati... OMIM:616038
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Ascites, Epistaxis, Cereb... ORPHA:99828
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Epistaxis OMIM:616216
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Arthrogryposis mult... OMIM:201550
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Small placenta, Severe intrauterine growth retardation, Low posterio... ORPHA:73272
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Oculocerebrocutaneous Syndrome
Orbital cyst, Eyelid coloboma, Orbital encephalocele, Alopecia OMIM:164180
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Sea-Blue Histiocytosis
Petechiae, Blepharitis, Abnormal bleeding, Edema ORPHA:158029
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:314050
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Preauricular hair displacement OMIM:618939
Snakebite Envenomation
Abnormal bleeding, Erythema, Gingival bleeding, Hypotension, Cerebral ischemia, Angioedema, Cardi... ORPHA:449285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Petechiae, Sp... ORPHA:274
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:253310
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Bruising susceptibility, Ecchymosis, Epistaxis OMIM:614009
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Tufted Angioma
Petechiae, Purpura, Hypertrichosis ORPHA:1063
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Redundant skin, Dry skin, Absent ey... ORPHA:920
Burn-Mckeown Syndrome
Atrial septal defect, Short palpebral fissure, Lower eyelid coloboma, Ventricular septal defect, ... OMIM:608572
Restrictive Dermopathy
Scaling skin, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, Premat... ORPHA:1662
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Petechiae, Gingival bleeding, Epistaxis, Ecchymosis, Bruising suscept... ORPHA:520
Cutaneous Small Vessel Vasculitis
Purpura, Vasculitis, Urticaria, Cutis marmorata, Erythema ORPHA:889
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Petechiae, Epistaxis, Ecchymosis, Prolonged bleed... OMIM:187900
Pseudo-Torch Syndrome 1
Petechiae, Patent foramen ovale, Jaundice, Umbilical hernia OMIM:251290
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Purpura, Gingival bleeding, Menorrhagia, Epistaxi... OMIM:231200
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Arthrogryposis multiplex congenita, Torticollis, Natal tooth OMIM:217150
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Intrin... ORPHA:90103
Primary Myelofibrosis
Abnormal bleeding, Purpura, Petechiae, Portal hypertension, Ecchymosis, Pallor ORPHA:824
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Petechiae, Dry skin, Downslanted palpebral fissures, Intrauterine grow... OMIM:620331
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Acrocy... ORPHA:49566
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Large placenta, Hydrops fetalis, Purpura, Petechiae, Prol... ORPHA:499009
Congenital Heart Block
Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft... ORPHA:60041
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Persistent bleeding after trauma, Epistaxis, Bruising susceptibility OMIM:300367
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Skin ulcer, Petechiae, Vasculitis, Gingival bleeding... ORPHA:906
Frontofacionasal Dysplasia
Upper eyelid coloboma, Encephalocele, Telecanthus, Limbal dermoid, Ptosis, Aplasia/Hypoplasia of ... ORPHA:1791
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Vasculitis in the skin, Purpura OMIM:620296
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Lower eyelid coloboma, Sparse eyelashes, Alopecia OMIM:616367
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Oculotrichoanal Syndrome
Cryptophthalmos, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Palmoplantar cutis... OMIM:268850
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Jaundice, Hypopigmentation of hair ORPHA:79477
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Cryptophthalmos, Abnormality of the hairline, Eyelid coloboma, Nasolac... OMIM:248450
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding OMIM:187800
Atrial septal defect, Hydrops fetalis, Telecanthus, Abnormal left ventricular outflow tract morph... ORPHA:79328
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Cryptophthalmos, Nonimmune hydrops... OMIM:617667
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Eyelid coloboma, Limbal dermoid, Atrial septal defect, Ventricular septal de... OMIM:613001
Meningococcal Meningitis
Petechiae, Purpura, Hypotension, Shock ORPHA:33475
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, High palate, Skeletal muscle atrophy ORPHA:85323
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity OMIM:614380
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Sprengel Deformity
Neck muscle hypoplasia, Shoulder muscle hypoplasia OMIM:184400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Telecanthus, Eyelid coloboma, Abnormal hair morphology OMIM:607597
Ablepharon-Macrostomia Syndrome
Single umbilical artery, Absent lanugo, Premature skin wrinkling, Absent eyelashes, Hypoplastic n... OMIM:200110
Orthostatic Hypotensive Disorder, Streeten Type
Syncope, Bruising susceptibility, Facial erythema, Orthostatic hypotension OMIM:143850
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Abnormal bleeding, Epistaxis OMIM:612840
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Ehlers-Danlos Syndrome, Classic Type, 2
Bruising susceptibility, Epicanthus, Fragile skin OMIM:130010
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hypoplasia of the musculature, Polymicrogyria, Joint contracture, Intrauterine g... OMIM:225790
Sepsis In Premature Infants
Abnormal bleeding, Jaundice, Purpura, Bradycardia, Petechiae, Hypotension, Caesarian section, Pre... ORPHA:90051
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Abnormal heart morphology, Umbilical hernia, Ventricular septal d... ORPHA:254534
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Kanzaki Disease
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae... OMIM:609242
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Menorrhagia, Ecchymosis, Epistaxis, Bruising susceptibility, Prolon... OMIM:153670
Petechiae, Dry skin, Thick eyebrow, Angiokeratoma, Cardiomegaly, Bruising susceptibility, Tortuos... OMIM:230000
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis OMIM:602473
Hemochromatosis, Type 3
Purpura, Cardiomyopathy OMIM:604250
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma, Spina bifida ORPHA:1104
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Cardiomyopathy, Gingival bleeding, Hematochezia, Epistaxis, Ecchymosis,... OMIM:203300
Bartsocas-Papas Syndrome
Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypoplasia of the eyebr... ORPHA:1234
Fetal Cytomegalovirus Syndrome
Petechiae, Jaundice, Intrauterine growth retardation, Retinal hemorrhage ORPHA:294
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Vasculitis, Gastrointestinal hemorrhage, Urticaria OMIM:603909
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Iga Nephropathy, Susceptibility To, 1
Purpura, Hypertension OMIM:161950
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Upper eyelid coloboma, Pterygium,... OMIM:616462
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Jaundice, Petechiae, Ecchymosis, Bruising susceptibility ORPHA:540
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Right ventricular dilatation, Pulmonary arterial hypertensi... OMIM:614437
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Boutonneuse Fever
Petechiae, Vasculitis ORPHA:83313
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Eyelid coloboma OMIM:614900
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged ble... ORPHA:465
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer ORPHA:743
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Supernumerary nipple, Eyelid coloboma ORPHA:246
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Petechiae, Sparse scalp hair, Premature birth, Intrauterine growth retardation OMIM:620133
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Thrombocytopenia 10
Abnormal bleeding, Petechiae, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility OMIM:620484
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow OMIM:613456
Fraser Syndrome 1
Upper eyelid coloboma, Encephalocele, Absent eyelashes, Myelomeningocele, Absent eyebrow, Extensi... OMIM:219000
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Purpura, Vasculitis, Hypertension, Transient ischemic atta... ORPHA:183
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Fragile skin, Umbilical hernia, Bruising susceptibility, Prominent superficial... OMIM:617174
Complement Component 2 Deficiency
Purpura OMIM:217000
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Acrofrontofacionasal Dysostosis
Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology, Generalized hirsutism, Low anterior hairline, ... ORPHA:2095
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Weakness of facial musculature, Hypoplasia of the musculature, Glossoptosi... OMIM:254940
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Hirsutism, Hypertension, Ecchymosis, Edema, Bruising susceptibility, Po... OMIM:219090
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis ORPHA:745
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Petechiae, Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:601399
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Capillary leak, Petechiae, Hypertension, Pleural effusion, ... ORPHA:340
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Purpura OMIM:605432
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Short palpebral fissure, Polyhydramnios, Small placenta, Stillbirth, Teleca... OMIM:208150
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Jaundice, Bradycardia, Capillary leak, Petechiae, ... ORPHA:99826
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Petechiae, Hypertension ORPHA:85450
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Momo Syndrome
Downslanted palpebral fissures, Cutis marmorata, Eyelid coloboma, Epicanthus OMIM:157980
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cyanosis, Gingival bleeding, Internal hemorrhage, ... ORPHA:335
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Restrictive Dermopathy 1
Scaling skin, Premature birth, Decreased fetal movement, Intrauterine growth retardation, Oligohy... OMIM:275210
Scalp-Ear-Nipple Syndrome
Narrow palpebral fissure, Congestive heart failure, Palpebral edema, Telecanthus, Breast aplasia,... OMIM:181270
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Congenital Myopathy 22B, Severe Fetal
Short philtrum, Triangular mouth, Shoulder flexion contracture, Dental crowding, Hypoplasia of th... OMIM:620369
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Pericardial effusion, Epistaxis, Subcon... ORPHA:464329
Jacobsen Syndrome
Telecanthus, Abnormal eyelash morphology, Ptosis, Epicanthus, Eyelid coloboma, Intrauterine growt... OMIM:147791
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Purpura, Xerostomia, Pulmonary arterial hypertension, P... ORPHA:809
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Epicanthus, Long eyelashes OMIM:615877
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Esophageal atresia, Cleft soft palate, Facial hypotonia OMIM:614526
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Large placenta, Polyhydramnios, Jaundice, Aortic regurgitation, Brittle hai... OMIM:222470
Immunodeficiency 81
Petechiae OMIM:619374
Primary Release Disorder Of Platelets
Bruising susceptibility, Spontaneous, recurrent epistaxis, Abnormal bleeding, Menorrhagia OMIM:176630
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Mirage Syndrome
Petechiae, Intrauterine growth retardation, Intracranial hemorrhage OMIM:617053
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Polyhydramnios, Telecanthus, Eyelid coloboma, Epicanthus, Limbal dermoid... ORPHA:3339
Helsmoortel-Van Der Aa Syndrome
Narrow palpebral fissure, Bilateral ptosis, High anterior hairline, Short palpebral fissure, Meco... OMIM:615873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Treacher Collins Syndrome 3
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:248390
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, ... ORPHA:1041
Jacobsen Syndrome
Ectropion, Spina bifida, Aortic valve stenosis, Ptosis, Downslanted palpebral fissures, Premature... ORPHA:2308
Livedoid Vasculopathy
Ischemic stroke, Skin ulcer, Macular purpura, Hypertension, Cutis marmorata, Ecchymosis, Telangie... ORPHA:542643
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Delayed eruption of teeth, Hypoplasia of the musculature, Selective to... OMIM:305620
Fraser Syndrome 2
Cryptophthalmos, Low anterior hairline, Oligohydramnios OMIM:617666
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Acral ulceration, Vascular skin a... ORPHA:91139
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Nail dystrophy, Ventricular bigeminy, Myofiber disarray, Bicuspid aortic valve, Patent foramen ov... OMIM:620519
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Generalized edema, Ecchymosis, Subconjunctival he... ORPHA:319213
Walker-Warburg Syndrome
Muscular dystrophy, Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia involving the ... ORPHA:899
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Fa... ORPHA:370968
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Momo Syndrome
Downslanted palpebral fissures, Cutis marmorata, Eyelid coloboma, Epicanthus ORPHA:2563
Native American Myopathy
Abnormality of skeletal muscle fiber size, High palate, Camptodactyly, Congenital contracture, Mu... ORPHA:168572
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Cutis laxa, Premature bir... ORPHA:363705
Sweeney-Cox Syndrome
Polyhydramnios, Upper eyelid coloboma, Patent foramen ovale, Generalized hirsutism, Low anterior ... OMIM:617746
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Ecchymosis, Intracranial h... ORPHA:324636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Arterial rupture, Follicular hyperkeratosis ORPHA:300179
Oculocerebrocutaneous Syndrome
Ptosis, Eyelid coloboma, Alopecia ORPHA:1647
Thrombocytopenia 1
Petechiae, Bruising susceptibility, Joint hemorrhage, Epistaxis OMIM:313900
Viss Syndrome
Ectropion, Coronary sinus enlargement, Cutis laxa, Mitral valve prolapse, Umbilical hernia, Right... OMIM:619472
Bleeding Disorder In Hemophilia A Carriers
Spontaneous hematomas, Abnormal bleeding, Post-partum hemorrhage, Menorrhagia, Joint hemorrhage, ... ORPHA:177926
Noonan Syndrome 4
Bilateral ptosis, High anterior hairline, Polyhydramnios, Abnormal bleeding, Hypertrophic cardiom... OMIM:610733
Classical Ehlers-Danlos Syndrome
Dermatochalasis, Premature birth, Bruising susceptibility, Mitral valve prolapse, Blepharochalasi... ORPHA:287
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Ptosis, Sparse eyebrow, Tetralogy of Fallot, Epicanthus, Eyelid coloboma, Crani... ORPHA:306542
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali... OMIM:616331
Oculoectodermal Syndrome
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Epicanthus, Eyelid coloboma, ... OMIM:600268
Arthrogryposis, Distal, Type 3
High palate, Camptodactyly of toe, Camptodactyly of finger, Decreased muscle mass, Bifid uvula, D... OMIM:114300
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Congenital, generalized hypertrichosis, Lymphedema, Long ... OMIM:239850
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Pl... ORPHA:33226
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Purpura, Vasculitis, Urticaria, Acrocyanosis, Erythema ORPHA:343
Thrombocytopenia 3
Petechiae, Epistaxis OMIM:273900
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Aortic valve stenosis, Menorrhagia, Joint hemorrhage, Epistaxis, Bru... OMIM:193400
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Telecanthus, Eyelid coloboma, Mitral atresia, Abnormal cardiac septum morph... ORPHA:140952
Treacher Collins Syndrome 1
Preauricular hair displacement, Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Ab... OMIM:154500
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypoplasia of the musculature, Hepatocellular carcinoma, Gr... ORPHA:231226
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Constricting Bands, Congenital
Ectopia cordis, Eyelid coloboma, Encephalocele OMIM:217100
3Mc Syndrome 2
Torticollis, Hypoplasia of the musculature, High palate, Diastasis recti, Cleft upper lip, Downtu... OMIM:265050
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Polyhydramnios, Redundant neck skin, Epicanthus, Umbilical hernia, Intrauterine g... ORPHA:254528
Proboscis Lateralis
Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular adnexa, Abnormal... ORPHA:141099
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Eyelid coloboma ORPHA:268249
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Neu-Laxova Syndrome
Muscular dystrophy, Abnormal cortical gyration, Polymicrogyria, Abnormality of the philtrum, Apla... ORPHA:2671
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Telecanthus, Ptosis, Cranium bifidum occultum, Eyelid coloboma, Abse... OMIM:229400
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Facial edema, Conjunctivitis, Skin vesicle, Acantholysis ORPHA:293173
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormality of the dentition, Camptodac... OMIM:618529
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Camptodactyly of finger, Hypodontia, Submucous cleft hard palate ORPHA:3201
Abnormal bleeding, Pedal edema, Cutaneous photosensitivity, Petechiae, Gingival bleeding, Epistax... ORPHA:324625
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta, Mitral valve prolapse, Arrhythmia, Bruising su... ORPHA:230839
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blepharochalasis, Telecanthus, Gingival hyperkeratosis, Redundant skin, Hirsutism, Gingival bleed... OMIM:225410
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, High palate, Narrow mouth, Thenar muscle atrophy, Broad philtrum, ... ORPHA:2463
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... ORPHA:559
Bleeding Disorder, Platelet-Type, 18
Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prol... OMIM:615888
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Idiopathic Aplastic Anemia
Ecchymosis, Epistaxis, Retinal hemorrhage, Gingival bleeding ORPHA:88
Bacterial Toxic-Shock Syndrome
Myocarditis, Scaling skin, Capillary leak, Hypotension, Ecchymosis, Tachycardia, Edema, Shock ORPHA:36234
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Jaundice, Hepatomegaly, Hypoplasia of the musculature, Hepatocellular... ORPHA:231214
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Aortic regurgitation, Telecanthus, Tricuspid regurgitation, Fragile ski... OMIM:601776
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma, Excessive... OMIM:618462
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Prematurely aged appearance, Redundant skin, Low posterior hairline, Umbilical ... OMIM:618000
Aicardi-Goutières Syndrome
Dry skin, Hypertrophic cardiomyopathy, Ptosis, Prolonged neonatal jaundice, Cutis marmorata, Rayn... ORPHA:51
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Noonan Syndrome 13
Broad eyebrow, Highly arched eyebrow, Lymphedema, Dry skin, Low posterior hairline, Almond-shaped... OMIM:619087
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Epistaxis, Menorrhagia OMIM:616176
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Spina bifida ORPHA:99742
Acrofacial Dysostosis 1, Nager Type
Urticaria, Downslanted palpebral fissures, Premature birth, Tetralogy of Fallot, Sparse lower eye... OMIM:154400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... OMIM:617412
Glanzmann Thrombasthenia 2
Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility, Prol... OMIM:619267
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Prolonged bleeding following c... ORPHA:169802
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... ORPHA:2712
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly ORPHA:2211
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding, Gingi... ORPHA:169805
Q Fever
Myocarditis, Purpura, Abnormal left ventricular function, Abnormal heart valve morphology, Vascul... ORPHA:781
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle weakness, S... ORPHA:2912
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Multiple muscular ventricular septal defects, Sparse eyelashes, Pericardial effus... OMIM:620070
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bilateral clef... OMIM:301068
Fraser Syndrome
Encephalocele, Myelomeningocele, Malformed lacrimal duct, Cryptophthalmos, Abnormal hair pattern,... ORPHA:2052
Branchioskeletogenital Syndrome
Telecanthus, Highly arched eyebrow, Periorbital wrinkles, Absent nipple, Synophrys, Umbilical her... ORPHA:1299
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:613554
Cinca Syndrome
Edema, Urticaria, Purpura, Premature birth ORPHA:1451
Noonan Syndrome 14
Polyhydramnios, Aortic regurgitation, Dry skin, Low posterior hairline, Hypertrophic cardiomyopat... OMIM:619745
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Gray Platelet Syndrome
Bruising susceptibility, Abnormal bleeding, Epistaxis ORPHA:721
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Purpura, Skin ulcer, Vascular skin abnormality, Vasculitis, Angioede... ORPHA:761
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Purpura, Melena, Petechiae, Gingiv... OMIM:301000
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture ORPHA:166016
Ehlers-Danlos Syndrome, Classic Type, 1
Premature birth following premature rupture of fetal membranes, Fragile skin, Umbilical hernia, E... OMIM:130000
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Dental ... ORPHA:2020
Postaxial Acrofacial Dysostosis
Ectropion, Downslanted palpebral fissures, Supernumerary nipple, Eyelid coloboma OMIM:263750
Rin2 Syndrome
Redundant skin, Hirsutism, Sparse scalp hair, Downslanted palpebral fissures, Umbilical hernia, B... ORPHA:217335
Agel Amyloidosis
Bilateral ptosis, Nail dystrophy, Dermatological manifestations of systemic disorders, Xerostomia... ORPHA:85448
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:250999
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Glycogen Storage Disease Of Heart, Lethal Congenital
Breech presentation, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, A... OMIM:261740
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia ORPHA:75497
Treacher-Collins Syndrome
Encephalocele, Abnormal hair morphology, Absent eyelashes, Blepharospasm, Downslanted palpebral f... ORPHA:861
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Umbilical hernia, I... ORPHA:567
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion bo... OMIM:618106
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Gingival cleft, Anencephaly, Bifid uvula, Cleft palate, Unilateral cleft lip, Submucous cleft har... ORPHA:2189
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Branchial fistula, Branchial cyst OMIM:609166
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Petechiae, Hypertrichosis, Purpura ORPHA:2330
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth, Abnormal heart morphology, Intrauterine... ORPHA:1708
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Spontaneous, recurrent epistaxis, Gingival bleeding,... OMIM:614072
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Arterial Tortuosity Syndrome
Short palpebral fissure, Ischemic stroke, Aortic regurgitation, Ventricular hypertrophy, Hyperten... OMIM:208050
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Myocarditis, Purpura, Dehydration, Hypovolemic shock, Urticaria, Conjunctivitis ORPHA:810
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Breast aplasia, Hypertension, Eyelid coloboma, Sparse hair ORPHA:2036
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Scapular winging, Unilateral cleft lip OMIM:619122
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Cleft soft palate, Scapular winging, High palate, Congenital finger f... OMIM:615582
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Bruising susceptibility, Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse OMIM:225320
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Purpura, Hydrops fetalis, Jaundice, Periorbital edema, Urticaria, Premat... OMIM:620376
Scorpion Envenomation
Myocarditis, Congestive heart failure, Purpura, Pulmonary edema, Prominent U wave, Hypertension, ... ORPHA:466677
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction OMIM:137560
Cushing Disease
Purpura, Skin ulcer, Pedal edema, Hirsutism, Hypertension, Sparse scalp hair, Capillary fragility... ORPHA:96253
Hermansky-Pudlak Syndrome 6
Single umbilical artery, Ecchymosis, Epistaxis, Bruising susceptibility, Prolonged bleeding time,... OMIM:614075
Charge Syndrome
Polyhydramnios, Abnormal aortic valve morphology, Highly arched eyebrow, Ptosis, Tetralogy of Fal... ORPHA:138
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgi... ORPHA:230851
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Excessive wrinkled skin, Striae dis... ORPHA:758
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Skin ulcer, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Mitral valve calcification,... ORPHA:2072
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Camptodactyly of finger, Umbilical hernia ORPHA:1101
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer, Vasculitis, Hypertension, Portal hypertension, Cutis marmorata, Raynaud phen... OMIM:615688
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Oligodontia, Elbow flexion contracture, Shoulder muscle hypoplasia... ORPHA:1826
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding time, Myoc... OMIM:155100
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Purpura, Skin ulcer, Angina pectoris, Vasculitis, Hypertension, Cere... ORPHA:900
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Vasculitis, Pericarditis, Cuti... ORPHA:727
Faundes-Banka Syndrome
Broad eyebrow, Hypoplasia of the lower eyelids, Sparse scalp hair, Long palpebral fissure, Downsl... OMIM:619376
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, Jo... ORPHA:98878
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Poor wound healing, Bruising susceptibility, Atrial septal defect, Dermal translucency, Arterial ... OMIM:619115
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Kagami-Ogata Syndrome
Large placenta, Polyhydramnios, Frontal hirsutism, Premature birth, Blepharophimosis ORPHA:254519
W Syndrome
Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen... ORPHA:2804
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Macs Syndrome
Palpebral edema, Redundant skin, Cutis laxa, Sparse eyebrow, Downslanted palpebral fissures, Brui... OMIM:613075
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate OMIM:619314
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Menorrhagia, Joint hemorrhage, Epistaxis, Persistent ... OMIM:277480
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Downslanted palpebral fissures ORPHA:157965
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleeding after trauma, Bruising suscep... OMIM:614076
Kyphoscoliotic Ehlers-Danlos Syndrome
Decreased fetal movement, Dextrocardia, Synophrys, Fragile skin, Downslanted palpebral fissures, ... ORPHA:536545
Mucoepithelial Dysplasia, Hereditary
Nail dystrophy, Corneal neovascularization, Melena, Follicular hyperkeratosis, Keratoconjunctivit... OMIM:158310
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Cleft palate, Flexion contracture, Amyoplasia OMIM:312150
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Reduced subcutaneous adipose tissue, Downslanted palpebral fissures, Premature birt... OMIM:616914
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulm... OMIM:609942
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Poor wound healing, Breech presentation OMIM:130060
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal cardiac ventricle morphology, Monoclonal light chain cardia... ORPHA:85443
Cutis Marmorata Telangiectatica Congenita
Purpura, Ascites, Cutis marmorata, Telangiectasia of the skin, Intrauterine growth retardation, S... ORPHA:1556
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Enamel... OMIM:614701
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Large placenta, Polyhydramnios, Short palpebral fissure, Redundant neck ski... ORPHA:96334
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the ey... ORPHA:98791
Subcutaneous hemorrhage, Prolonged bleeding time, Abnormal bleeding, Pulmonary hemorrhage ORPHA:238459
Purpura, Pallor OMIM:254450
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Meckel Syndrome, Type 1
Occipital encephalocele, Single umbilical artery, Large placenta, Breech presentation, Anencephal... OMIM:249000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Alo... OMIM:618775
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Hyperkeratosis, Cardiom... ORPHA:79430
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,... ORPHA:1071
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Abnormal bleeding, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, ... ORPHA:292
Ehlers-Danlos Syndrome, Vascular Type
Alopecia of scalp, Hemothorax, Fragile skin, Premature delivery because of cervical insufficiency... OMIM:130050
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Delayed eruption of teeth, Facial palsy, Bifid uvula, Cleft palate, Submucou... ORPHA:2780
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bruising susceptibility OMIM:605735
Essential Thrombocythemia
Abnormal bleeding, Transient ischemic attack, Bruising susceptibility, Prolonged bleeding time, M... ORPHA:3318
Hepatitis Delta
Bruising susceptibility, Abnormal bleeding, Jaundice ORPHA:402823
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Roberts-Sc Phocomelia Syndrome
Stillbirth, Polyhydramnios, Severe intrauterine growth retardation, Shallow orbits, Downslanted p... OMIM:268300
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Short hard palate, Elbow flexion contracture, Glossoptosis, Hig... OMIM:117650
Zika Virus Disease
Intrauterine growth retardation, Subcutaneous hemorrhage, Edema, Conjunctivitis ORPHA:448237
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, Downslanted palpebral fissures, Lack of skin elasticity,... OMIM:612940
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Neona... OMIM:215140
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Aortic regurgitation OMIM:603585
Myhre Syndrome
Thin vermilion border, Gingival cleft, Skeletal muscle hypertrophy, Narrow mouth, Bifid uvula, Un... ORPHA:2588
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Scapular winging, Short stature, Short nail, Sparse hair, Umbilica... OMIM:278250
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil... OMIM:620450
Postinfectious Vasculitis
Ischemic stroke, Palpable purpura, Bacterial endocarditis, Hypertension, Cardiomyopathy, Vasculit... ORPHA:48435
Orofaciodigital Syndrome Type 10
Long philtrum, Accessory oral frenulum, Cleft soft palate ORPHA:2756
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse, Bruising susceptibility, Poor wound healing, St... OMIM:606408
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Tongue nodules, High palate, Talon cusp, Agenesis of centr... ORPHA:2751
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Submucous cleft hard palate, Torticollis, Thin upper lip vermilion OMIM:619680
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Unilateral cleft palate, Wide mouth, Unilateral cleft lip, Submucous c... OMIM:619103
Multiple Pterygium Syndrome, Lethal Type
Cleft palate, Flexion contracture, Amyoplasia OMIM:253290
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bruising susceptibility, Downslanted palpebral fissures, Prominent superficial veins OMIM:612350
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding time, ... ORPHA:182050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Treacher Collins Syndrome 2
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:613717
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, Hip contracture, High palate, Flexion contracture OMIM:222765
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Excessive wrinkled skin, Follicular hyperk... OMIM:225400
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Albinism OMIM:614073
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Widely spaced teeth, Cleft soft palate, Limb hypertonia, Short philtrum, Ank... OMIM:619950
Myocarditis, Purpura, Abnormal aortic valve morphology, Arteritis, Transient ischemic attack, Ple... ORPHA:1304
Stickler Syndrome, Type I
Submucous cleft hard palate, Bifid uvula, Pierre-Robin sequence, Cleft palate OMIM:108300
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Smooth philtrum, Cleft soft palate ORPHA:293725
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Purpura, Raynaud phenomenon OMIM:607944
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe... OMIM:608670
Cushing Syndrome Due To Ectopic Acth Secretion
Peripheral edema, Purpura, Skin ulcer, Pedal edema, Hirsutism, Hypertension, Sparse scalp hair, C... ORPHA:99889
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, High palate, Contracture of the proximal interphalangeal joint o... ORPHA:457279
Classical-Like Ehlers-Danlos Syndrome Type 2
Bilateral ptosis, Redundant skin, Prominent veins on trunk, Pericardial effusion, Mitral valve pr... ORPHA:536532
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Submucous cleft hard palate, Bifid uvula OMIM:617660
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Poor wound healing, Dermal translucency, Arterial rupture OMIM:619120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hypertension OMIM:235400
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Abnormal heart valve morphology, Redundant skin, Downslanted palpebral fissure... ORPHA:2953
Quebec Platelet Disorder
Bruising susceptibility, Menorrhagia, Joint hemorrhage, Epistaxis OMIM:601709
Marden-Walker Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Narrow mouth, Pyloric ... ORPHA:2461
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Myopathy, Cleft soft palate, Skeletal muscle atrophy OMIM:614557
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Hypertension, Fragile skin, Dorsocervical fat pad, Bruising susceptibility, Alopecia OMIM:615830
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Pulmonic stenosis, Bruising susceptibility, Dermal translucency, Upslanted palpebral fissure, Pre... OMIM:618343
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time, Pallor ORPHA:3226
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Skin ulcer, Epistaxis, Gingival bleeding ORPHA:352723
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Intrauterine growth retardation, Alopecia OMIM:619321
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pedal edema, Pleural effusion, Pericardial e... ORPHA:199241
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Submuco... OMIM:300990
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Umbilical hernia, ... OMIM:192430
Primary Sjögren Syndrome
Purpura, Skin ulcer, Arteritis, Vasculitis, Xerostomia, Dry skin, Cutis marmorata, Raynaud phenom... ORPHA:289390
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Redundant skin, Hypertrophic cardiomyop... ORPHA:116
Adiposis Dolorosa
Dry skin, Sparse pubic hair, Telangiectasia of the skin, Sparse axillary hair, Bruising susceptib... ORPHA:36397
Limb-Mammary Syndrome
Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip ORPHA:69085
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Fragile skin, Umbilical hernia, Bruising susceptibility, Poor wound healing, P... OMIM:130080
Charcot-Marie-Tooth Disease Type 1E
Distal lower limb muscle weakness, Peroneal muscle weakness, Hand muscle weakness, Peroneal muscl... ORPHA:90658
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Albinism, Fair hair OMIM:619172
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Abnormal bleeding ORPHA:231401
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth ORPHA:3426
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Short philtrum, Facial palsy, Submucous cleft of soft and hard p... OMIM:301022
Contractural Arachnodactyly, Congenital
Elbow flexion contracture, High palate, Wrist flexion contracture, Camptodactyly, Congenital fing... OMIM:121050
Loeys-Dietz Syndrome 4
Cutis laxa, Ptosis, Downslanted palpebral fissures, Mitral valve prolapse, Bicuspid aortic valve,... OMIM:614816
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Submucous cleft hard palate,... OMIM:619227
Narrow mouth, Intestinal malrotation, Cleft palate, Bifid uvula, Splenomegaly, Submucous cleft ha... ORPHA:35107
Meester-Loeys Syndrome
Downslanted palpebral fissures, Mitral valve prolapse, Umbilical hernia, Bruising susceptibility,... OMIM:300989
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Abnormal bleeding, Fragile skin, Mitral valve prolapse, Umbilical herni... ORPHA:1900
Noonan Syndrome
Coarse hair, Abnormal bleeding, Abnormal hair quantity, Lymphedema, Low posterior hairline, Hyper... ORPHA:648
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Shallow orbits, Intrauterine growth retardation, Bruising susceptibility, Arterial r... OMIM:612394
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Purpura, Pulmonary hemorrhage, Arteritis ORPHA:93126
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Transient ischemic attack, Downslanted palpebral fissures, Umbilical her... OMIM:619656
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Bruising susceptibility, Albinism, Prolonged bleeding time OMIM:614074
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, High palate, Camptodactyly, Eosinophilic infiltration of the esoph... OMIM:609192
Fanconi Anemia, Complementation Group C
Anemic pallor, Epicanthus, Intrauterine growth retardation, Bruising susceptibility, Ventricular ... OMIM:227645
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Orofaciodigital Syndrome Type 4
Orofacial cleft, High, narrow palate, Short philtrum, Rectovaginal fistula, Perineal fistula, Ana... ORPHA:2753
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Gingival bleeding, Budd-Chiari syndro... ORPHA:729
Common Variable Immunodeficiency
Vasculitis, Purpura ORPHA:1572
Gray Platelet Syndrome
Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:139090
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Open bite, High palate, Abnormality of the dentition, Splenomegaly, Thick ve... OMIM:115150
Craniofacial Microsomia 1
Occipital encephalocele, Upper eyelid coloboma, Branchial anomaly, Ptosis, Tetralogy of Fallot, L... OMIM:164210
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Periorbital edema, Vasculitis, Pericarditis, Abnormal myocardium morphology, Conjunctivitis, Brui... ORPHA:32960
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent urachus, Scimitar ano... OMIM:618280
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin lower lip vermilion, Elbow flexion contracture, Microdontia, Hip contracture, Deep philtrum,... OMIM:619194
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Silver-gray hair, Gingival bleeding, Menorrhagia, Epist... OMIM:614077
Brittle Cornea Syndrome 2
Bruising susceptibility, Umbilical hernia OMIM:614170
Meier-Gorlin Syndrome 5
Long philtrum, Submucous cleft hard palate, Thick vermilion border OMIM:613805
Noonan Syndrome 1
Abnormal bleeding, Chylothorax, Lymphedema, Dry skin, Low posterior hairline, Hypertrophic cardio... OMIM:163950
Brittle Cornea Syndrome
Pulmonic stenosis, Bruising susceptibility, Abnormality of hair pigmentation, Mitral valve prolapse ORPHA:90354
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Hypertension, Sparse scalp hair, Cerebral i... ORPHA:394
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility OMIM:620080
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Wide mou... OMIM:300967
Stormorken Syndrome
Bruising susceptibility, Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage OMIM:185070
Gaucher Disease Type 1
Abnormal bleeding, Pinguecula, Gingival bleeding, Ascites, Pulmonary arterial hypertension, Porta... ORPHA:77259
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Generalized limb muscle atrophy, Flexion contracture OMIM:618891
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Dental crowding, Elbow flexion contracture, Narrow ... OMIM:619503
Chédiak-Higashi Syndrome
Abnormal bleeding, Jaundice, Hypopigmentation of hair, Cutaneous photosensitivity, Gingival bleed... ORPHA:167
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Lymphedema, Cutis marmorata, Intracranial hemorrhage, Subcutaneous hemorrhage, T... ORPHA:109
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Congestive heart failure, Gastrointestinal hemorrhage, Spontaneous hematom... ORPHA:774
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Single umbilical artery, Transposition of the great arteries, Doub... ORPHA:2255
Dubowitz Syndrome
Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Thick vermil... OMIM:223370
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Long palpebral fissure, Downslanted pa... ORPHA:500095
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Menkes Disease
Spontaneous hematomas, Gastrointestinal hemorrhage, Hypopigmentation of hair, Dry skin, Woolly ha... ORPHA:565
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Cleft soft palate, High palate, Adenocarcinoma of the colon, ... ORPHA:124
Ear-Patella-Short Stature Syndrome
High, narrow palate, Narrow mouth, Camptodactyly of finger, Bifid uvula, Cleft palate, Thick verm... ORPHA:2554
Acth-Independent Macronodular Adrenal Hyperplasia
Bruising susceptibility, Hypertension, Striae distensae OMIM:219080
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal dental enamel morphology, Facial palsy, Cleft palate, Bifid uvula, ... ORPHA:2658
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Spina bifida occulta, Delayed eruption of teeth, High palate, Abn... ORPHA:235
Tolchin-Le Caignec Syndrome