Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hyaluronoglucosaminidase 2
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 Hyal2 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.

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

The table below shows human diseases predicted to be associated to Hyal2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea... ORPHA:3319
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Cleft pala... OMIM:246560
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Mitral... ORPHA:90653
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:776
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Scoliosis, Anemia ORPHA:2802
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Atrial septa... OMIM:241310
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... OMIM:614946
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short neck, Hyperlordosis, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... ORPHA:79113
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft uppe... ORPHA:915
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition ORPHA:2776
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum, Osteop... OMIM:156510
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, Protruding ear, High palate ORPHA:85279
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Thin upper lip vermilion, V... OMIM:309520
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Bone pain, Anemia, Hypocholesterolemia, Th... OMIM:610539
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Interictal ep... OMIM:618737
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Thrombocytopenia OMIM:209970
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
20P12.3 Microdeletion Syndrome
Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Microtia, Long philtrum, Atrial septa... ORPHA:261295
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Hypoplasia of the maxi... ORPHA:293939
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphology, Hypoplas... ORPHA:178303
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-... ORPHA:245
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Widely spac... OMIM:601216
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Short nose, Distichiasis, Anemia ORPHA:2598
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Submucous cleft hard palate, Hypsarrhythmia, Pulmonic ... OMIM:619239
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... OMIM:612292
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypoplasi... OMIM:218000
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Facial palsy... ORPHA:2780
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Epicanthus, Anteverted nares, Short neck, Short nose, Abnormal vertebral morphology ORPHA:2015
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Thrombocytopenia OMIM:189800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill... ORPHA:1307
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsa... OMIM:166300
Forsythe-Wakeling Syndrome
Prominent nasal bridge, Delayed skeletal maturation, Osteoporosis, Nephrotic syndrome, Thrombocyt... OMIM:613606
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Lowry-Maclean Syndrome
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosyn... ORPHA:2409
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Acrocephalopolydactyly
Epicanthus, Genu recurvatum, Short neck, Depressed nasal ridge, Hepatosplenomegaly, Premature clo... ORPHA:221054
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atrophy, Cleft pa... OMIM:614261
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Narrow mouth ORPHA:1529
Crouzon Syndrome
Hypoplasia of the maxilla, Optic atrophy, Narrow palate, Multiple suture craniosynostosis, Conduc... ORPHA:207
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper... ORPHA:713
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... ORPHA:3201
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:614727
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... OMIM:274150
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... ORPHA:96129
Dermotrichic Syndrome
Depressed nasal bridge, Aminoaciduria, Blepharophimosis, Short nose, Abnormal vertebral morpholog... ORPHA:99688
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... OMIM:309620
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hydrolethalus
Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft ... ORPHA:2189
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Submucous cleft hard palate, Thick lower lip ve... OMIM:619103
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairment, Atrial septa... OMIM:201000
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Abnormal heart morphology, Short... OMIM:601499
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Stickler Syndrome, Type I
Micrognathia, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Sensorineural hearing... OMIM:108300
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Attention deficit ... OMIM:164220
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Smooth philtrum, Aggressive behavior, Hypoplasia of the maxilla, Flexion contracture, Hyperextens... ORPHA:481152
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... OMIM:619142
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Clef... OMIM:114300
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt... OMIM:123500
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Anteverted nares, Depressed nasal bridge, Splenomegaly, Abnormality o... ORPHA:85212
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... ORPHA:363417
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... OMIM:613313
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Flexion contractur... OMIM:222765
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Optic atrophy, Mitral valve prolaps... OMIM:216550
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, Abnormal tricuspid valve morphology, High palate, Wide... ORPHA:192
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Osteopenia, Sensorineural hearing impairment OMIM:608154
Cernunnos-Xlf Deficiency
Bulbous nose, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Convex nasal ridge, Thro... ORPHA:169079
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, ... OMIM:106260
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of helix, Thicke... OMIM:619122
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... ORPHA:2662
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Hypoplasti... ORPHA:560
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Pycnodysostosis
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... ORPHA:763
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Restlessness, Hyperactivity, Thin upper lip vermilion, Micrognathia, Hypop... OMIM:300534
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iro... OMIM:619991
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria, Anemia OMIM:238700
Potocki-Shaffer Syndrome
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Wormian bones,... OMIM:601224
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Bulbous nose, Flexion contracture... OMIM:616549
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic a... ORPHA:313892
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Anteverted nares, Depressed nasal bridge, Short neck, Microvesicul... OMIM:300868
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi... OMIM:159550
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Trigonocephaly 1
Epicanthus, Craniosynostosis, Synophrys, Long penis, Wide nasal bridge, Upslanted palpebral fissu... OMIM:190440
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Joint laxity, Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
17Q21.31 Microduplication Syndrome
Epicanthus, Anteverted nares, Synophrys, Short nose, Thick eyebrow ORPHA:217340
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency, Conical ... OMIM:129400
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub... ORPHA:2588
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Cleft upper lip, Hypoplasia of the maxilla... OMIM:305400
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Retrognathia... OMIM:619227
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Recurrent pharyngiti... ORPHA:108
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Hypoplasia... OMIM:170390
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Malar fla... OMIM:620157
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, T... OMIM:617616
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, High ... OMIM:101600
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:601390
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1798
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thrombocytopenia OMIM:619751
Kniest Dysplasia
Arthropathy, Enlarged joints, Depressed nasal bridge, Short neck, Joint stiffness, Hypoplasia of ... ORPHA:485
Native American Myopathy
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mo... ORPHA:168572
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b... OMIM:613805
Potocki-Shaffer Syndrome
Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Depressed nasal t... ORPHA:52022
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Thin upper lip vermilion, EEG with spike-wave complexes, Hyper... OMIM:618587
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Neonatal Hemochromatosis
Anteverted nares, Prominent nose, Congenital hepatic fibrosis, Increased circulating ferritin con... ORPHA:446
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... ORPHA:1071
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Non-Distal Duplication 10Q
Depressed nasal bridge, Joint hyperflexibility, Scoliosis, Blepharophimosis, Short nose, Downslan... ORPHA:1695
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia of the maxilla, Prominent crus of h... ORPHA:794
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Conducti... ORPHA:314679
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, H... ORPHA:782
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Depressed nasal bridge, Short neck, Thrombocytopenia, Micronodular ci... OMIM:606003
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Abnormal auditory ... OMIM:109120
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopen... ORPHA:79277
Wt Limb-Blood Syndrome
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... OMIM:194350
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... OMIM:606069
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide mouth, Hypoplasia of th... ORPHA:251061
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Atelis Syndrome 1
Prominent nose, Lumbar kyphosis, Anemia, Leukopenia, Downslanted palpebral fissures, Thrombocytop... OMIM:620184
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Thrombocytopenia, ... ORPHA:905
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Epicanthus, Short nose OMIM:300577
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypoplasi... ORPHA:193
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Posterio... OMIM:608670
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein co... OMIM:612852
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Increased bone mineral densi... OMIM:259700
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micr... ORPHA:2554
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... ORPHA:14
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... ORPHA:228396
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis ORPHA:1450
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia, Retrognathia, ... OMIM:616462
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslanted ... OMIM:617333
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Kagami-Ogata Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Microtia... OMIM:608149
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... ORPHA:77259
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short neck, Large fontanelles, Depressed nasal ridge, Short nose, Delayed crani... ORPHA:1832
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Fixed... ORPHA:166016
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Spina bifida, Micrognathia, Trismus, Macro... ORPHA:2671
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Large ... OMIM:608104
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea... ORPHA:950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Ovoid verte... ORPHA:163649
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Conv... OMIM:610333
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Joint laxity, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal... ORPHA:439822
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microg... ORPHA:35107
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic s... OMIM:617303
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega... OMIM:616050
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Micrognat... OMIM:616331
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing... OMIM:259600
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... OMIM:155050
Martsolf Syndrome 1
Joint laxity, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Cardiomyopathy, ... OMIM:212720
Shprintzen-Goldberg Syndrome
Osteopenia, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hy... ORPHA:2462
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, ... OMIM:182212
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow,... OMIM:618828
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati... OMIM:170100
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Optic ... ORPHA:99742
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas... OMIM:610377
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplas... OMIM:615546
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia ORPHA:69077
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia, Renal tubular dysfunction, Neutropenia... ORPHA:289916
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum OMIM:614526
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... ORPHA:2095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatiti... ORPHA:79312
Buratti-Harel Syndrome
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... OMIM:619314
Lamb-Shaffer Syndrome
Epicanthus, Broad nasal tip, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Craniosynostosis, Abnormality ... ORPHA:1299
Velocardiofacial Syndrome
Ventricular septal defect, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft har... OMIM:192430
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Fg Syndrome 5
Epicanthus, Depressed nasal bridge, Hypospadias, Anteverted nares, Upslanted palpebral fissure, M... OMIM:300581
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Abnormality of the dentitio... OMIM:608156
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Epicanthus, Anteverted nares, Elevated circulating creatine kinas... OMIM:619743
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aggressive behavior, ... ORPHA:457279
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares ORPHA:46
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... OMIM:620107
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Hypospadias, Short neck, Microcytic anemia, Flexion contracture, Wide nasal bridge, D... ORPHA:98791
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Shashi-Pena Syndrome
Epicanthus, Unilateral renal agenesis, Broad nasal tip, Highly arched eyebrow, Kyphosis, Synophry... OMIM:617190
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acromicric Dysplasia
Abnormal eyebrow morphology, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Bulbous n... ORPHA:969
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi... OMIM:155100
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic... OMIM:230800
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic lef... OMIM:617660
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ... OMIM:231070
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Heari... OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni... ORPHA:27
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Joint hyperflexibility, Abnormal cardiac septum morphology, Abnorma... ORPHA:2412
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Congenital hip dislocation, Short neck, Short nose, Downslanted p... ORPHA:217385
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... OMIM:600920
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated circulating creatini... ORPHA:275555
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Dysplastic tricuspid ... OMIM:612863
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Limited elbow movemen... OMIM:300280
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Long nose, Proximal/middle symphalangism of 5th finger, Fused cervical... OMIM:184460
Codas Syndrome
Epicanthus, Hydroureter, Depressed nasal bridge, Anteverted nares, Congenital hip dislocation, Ex... ORPHA:1458
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... ORPHA:210136
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, At... OMIM:115150
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, Fused cervical vertebrae, P... ORPHA:3320
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Abnormal thoracic spine morphology, Anteverted nares, Epicanth... ORPHA:46059
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Posteriorly rotated ears, Craniosynost... OMIM:213980
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent... OMIM:617796
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Delayed skeletal maturation, Flexion contracture, Scoliosis, Short nose OMIM:618379
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Prominent nos... OMIM:185070
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... OMIM:300990
Isolated Agammaglobulinemia
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp... ORPHA:229717
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Depressed nasa... ORPHA:231226
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c... ORPHA:91547
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Macrotia, Hyperplasia of th... OMIM:620194
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, In... OMIM:613845
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul... OMIM:193700
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Cleft palate, Low-set ea... ORPHA:1790
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Polyarticular arthritis OMIM:616744
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:619151
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
X-Linked Agammaglobulinemia
Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:47
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Wide nasal bridge, Anemia ORPHA:1551
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Telecanthus, Anteverted nares, Hyperlordosis, Wide nasal bridge, Ca... OMIM:619980
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Depressed nasal bridge, Anemia of i... ORPHA:231214
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pharyngitis, Abnormal joint morphology, L... ORPHA:47612
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears OMIM:167730
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Posteriorly rotated ears, Micrognathia, Abnormality of ... OMIM:618529
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia ORPHA:67048
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Lumbar hyperl... OMIM:242900
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Synophrys, Scoliosis, Short nose, Thick eyebrow ORPHA:2429
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Osteoarthrit... OMIM:618000
Pierpont Syndrome
Wide nose, Telecanthus, Short neck, Broad nasal tip, Unilateral narrow palpebral fissure, Narrow ... OMIM:602342
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Anteverted nares, Prominent n... ORPHA:2332
14Q11.2 Microdeletion Syndrome
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Blepharophimosis, Short nose, Sparse l... ORPHA:261120
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Weill-Marchesani Syndrome 1
Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Tooth malposition, Narrow ... OMIM:277600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopathy, Cervical l... ORPHA:3392
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Broad nasal tip ORPHA:370010
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Epicanthus, Anteverted nares, Anterior concavity of thoracic vertebrae, Persistence of hemoglobin... OMIM:617101
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein c... OMIM:614034
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Fanconi Anemia, Complementation Group I
Short neck, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, Bone marrow hypocellula... OMIM:609053
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia ORPHA:510
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Ventricular septal defect, Calcaneal epiphyseal stippling, Optic nerve ... ORPHA:79345
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Micrognathia, Situs inversus to... ORPHA:2461
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Chromosome 16Q22 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Highly arched eyebrow, ... OMIM:614541
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Bilateral ptosis, Short nose ORPHA:79134
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Facial ... ORPHA:2658
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Hypercalcemia, Hypospadias, Craniosynostosis, Delayed skeleta... OMIM:614732
Holoprosencephaly 9
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Oste... ORPHA:98850
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Baker-Gordon Syndrome
Joint laxity, Epicanthus, Scoliosis, Prominent nasal tip, Short nose OMIM:618218
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Abnormality of the fontanelles or cranial sutures, Anemia, ... ORPHA:290
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage of external ear, Subm... ORPHA:3426
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Underde... OMIM:604173
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Aceruloplasminemia
Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Blepharos... OMIM:604290
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Microtia, Low-set ears, Narro... OMIM:613804
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Thrombocytopenia With Congenital Dyserythropoietic Anemia