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Gene: Hyal2 MGI:1196334

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Bifid uvula, Cleft lip, Submucous cleft soft palate 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
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
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
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:199306
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... ORPHA:99772
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me... ORPHA:401942
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Abnormal ... OMIM:246560
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Mitral valve prolapse, Joint hypermobility, Sensorineur... ORPHA:90653
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytop... OMIM:611490
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia ORPHA:33574
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Scoliosis ORPHA:2802
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia... OMIM:614946
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Short neck, Ptosis, Hyperlordosis, C... ORPHA:2522
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conductive hearing impairme... OMIM:616367
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Impaired platelet aggregation, Xant... OMIM:210250
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of... ORPHA:79113
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Abnormal pancreas morphology, Increased ... ORPHA:48818
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hy... OMIM:611590
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Cholecystitis, Spl... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Hepatitis, Increased mean corpuscular hemoglobin concentrat... OMIM:194380
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Cleft upper l... ORPHA:915
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, Aggressive behavior, High palate ORPHA:85279
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short philtrum, Thin vermilion border, Osteoporosis of vertebrae, Prem... OMIM:156510
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa... ORPHA:53693
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Reduced socia... OMIM:309520
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Protruding e... OMIM:618737
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... OMIM:224120
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Ptosis, Thrombocytopenia, H... OMIM:610539
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ane... OMIM:603552
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... OMIM:609166
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Absent antihelix, Stereoty... ORPHA:293939
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Thrombocytopenia OMIM:209970
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Atrial septal defect, T... ORPHA:261295
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Limitation of joint mobili... ORPHA:178303
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... ORPHA:232
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia, Macrotia ORPHA:93950
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Mitral valve prolapse, Oligodontia, Microdontia, ... OMIM:601216
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Atresia of the e... ORPHA:245
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Malar f... ORPHA:2972
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Anemia, Scoliosis, Kyphosis, Short nose ORPHA:2598
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, EEG with burst suppression, Submucous cleft hard palate, Hypsarrhythmia, Atrial sept... OMIM:619239
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:218000
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Malaria
Acute kidney injury, Hyperbilirubinemia, Anemia, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Bifid uvula, Low-set ears, Coarse metaphyseal trabecu... ORPHA:2780
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate OMIM:300676
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Epicanthus, Short neck, Short nose ORPHA:2015
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteo... OMIM:166300
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, Short ph... OMIM:612292
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:189800
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Hepatosplenomegaly, Epicanthus, Short neck, Premature clo... ORPHA:221054
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Delayed skeletal maturation, Prominent nasal bridge, Thrombocytopenia, Osteop... OMIM:613606
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Microglossia, Conductive hearing impairment, Low-se... ORPHA:1307
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Low-set ears, Retrognathia, Downturne... ORPHA:2409
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Hearin... ORPHA:2712
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult... ORPHA:207
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Hearing impairment, Patent foramen ovale,... OMIM:614261
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Narrow mouth, Camptodactyly of finger ORPHA:1529
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Abnormal mandible morphology, Camptodactyly of finger, Submucous cleft hard ... ORPHA:3201
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen... OMIM:615008
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Macrotia ORPHA:93945
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Kyphoscoliosis, Elevated circulati... OMIM:614727
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Bifid uvula, Conductive hearing impairment, Thick lower lip vermilion, Open mouth, ... OMIM:617412
Dermotrichic Syndrome
Abnormal vertebral morphology, Depressed nasal bridge, Aminoaciduria, Blepharophimosis, Anemia, S... ORPHA:99688
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Low-set, posterior... ORPHA:2189
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Fused cervical ver... OMIM:309620
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Complete atrio... OMIM:619142
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Frequent temper tant... OMIM:619103
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ... ORPHA:288
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Micrognathia, Ventricul... OMIM:201000
Stickler Syndrome, Type I
Bifid uvula, Conductive hearing impairment, Joint stiffness, Micrognathia, Malar flattening, Mitr... OMIM:108300
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Sensorineural hea... OMIM:608154
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ... OMIM:123500
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention deficit hyperacti... OMIM:164220
Mucopolysaccharidosis, Type Ix
Bifid uvula, Recurrent otitis media, Wrist hypermobility, Submucous cleft hard palate, Synovitis,... OMIM:601492
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Umbilical hernia, Abnormal heart mo... OMIM:601499
Arthrogryposis, Distal, Type 3
Bifid uvula, Camptodactyly of finger, Micrognathia, Knee flexion contracture, Submucous cleft har... OMIM:114300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Wrist hypermobility, ... ORPHA:481152
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia OMIM:616176
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Prominent nasal tip, Ptosis, S... ORPHA:502430
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Unilateral ... OMIM:619122
Fetal Gaucher Disease
Depressed nasal bridge, Ectropion, Abnormality of the spleen, Pancytopenia, Anteverted nares, Spl... ORPHA:85212
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of... ORPHA:363417
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im... ORPHA:192
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate OMIM:108721
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Tetralogy of Fallot, Micrognathia, Epiphyseal stippling, Hip contracture, Submucous c... OMIM:222765
Cernunnos-Xlf Deficiency
Lymphopenia, Bulbous nose, Thrombocytopenia, B lymphocytopenia, Anemia, Convex nasal ridge, T lym... ORPHA:169079
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding ton... OMIM:105830
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thin upper lip vermilion, Agg... OMIM:300534
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Pycnodysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Abnormal... ORPHA:763
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Sensorineural hea... ORPHA:2662
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p... ORPHA:560
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorl... ORPHA:391474
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Epicanthus, Abnormal hepatic echogeni... OMIM:619991
Potocki-Shaffer Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Downslanted palpebral fissu... OMIM:601224
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, second degree, Microtia, third degree, Micrognathi... OMIM:620444
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Bulbous nose, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, S... OMIM:616549
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, R... OMIM:617616
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Exaggerated median tongue furrow, Dental crowding, Hyperp... ORPHA:313892
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Decreased sku... ORPHA:50814
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Micrognathia, Accessory oral frenulum, ... OMIM:252100
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th... OMIM:616738
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Elbow flexion contracture, Anteverted nares, Vesicoureteral reflux, Upsla... OMIM:300868
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Babesiosis
Hepatic failure, Limitation of joint mobility, Leukopenia, Renal insufficiency, Splenomegaly, Thr... ORPHA:108
17Q21.31 Microduplication Syndrome
Anteverted nares, Thick eyebrow, Epicanthus, Short nose, Synophrys ORPHA:217340
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Retrognathia, Muscular ventricular septal defect, Submucous cleft hard palate, Atte... OMIM:619227
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Neutropenia, Anemia,... OMIM:159550
Trigonocephaly 1
Lumbar hemivertebrae, Wide nasal bridge, Long penis, Upslanted palpebral fissure, Epicanthus, Met... OMIM:190440
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Unilateral cle... ORPHA:2588
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla, Joint hypermobility OMIM:613671
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Large earlobe, Joint hypermobility, Hypodontia, Atten... OMIM:305400
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Hypoplas... ORPHA:861
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased circulating carnitine concentration OMIM:611283
Kniest Dysplasia
Platyspondyly, Depressed nasal bridge, Delayed epiphyseal ossification, Hypoplasia of the odontoi... ORPHA:485
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognat... OMIM:170390
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Dysostosis, Stanescu Type
Macroglossia, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Hypoplasia ... ORPHA:1798
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Hearing impairment, Micrognathia, Malar flattening, Mand... OMIM:620157
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Gaucher Disease Type 1
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Hematuria, Avascular necrosis, Cirrhosis, Hepato... ORPHA:77259
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Abnormal palate morphology ORPHA:1540
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Van Maldergem Syndrome 1
Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Anteriorly placed anu... OMIM:601390
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Microdontia, Hypodontia, Everted lo... ORPHA:782
Stuve-Wiedemann Syndrome 2
Neonatal death, Thrombocytopenia, Stillbirth, Camptodactyly, Scoliosis OMIM:619751
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Potocki-Shaffer Syndrome
Broad nasal tip, Underdeveloped nasal alae, Depressed nasal tip, Prominent nasal bridge, Decrease... ORPHA:52022
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, EEG with spike-wave complexes, EEG with polyspike wave complexes, Hyper... OMIM:618587
Non-Distal Duplication 10Q
Depressed nasal bridge, Downslanted palpebral fissures, Joint hypermobility, Blepharophimosis, Co... ORPHA:1695
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Anemia, Scoliosis, Genu varum OMIM:618728
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Long philtrum, Childhood onset... ORPHA:251061
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate... OMIM:613805
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Diamond-Blackfan Anemia 8
Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short nose OMIM:612563
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration, Prominent... ORPHA:446
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Humeroradial synostosis, El... OMIM:101600
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Cerebrofacioarticular Syndrome
Self-injurious behavior, Osteopenia, Hypoplasia of the maxilla, Anal stenosis, Conductive hearing... ORPHA:314679
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Transaldolase Deficiency
Hepatic fibrosis, Depressed nasal bridge, Micronodular cirrhosis, Decreased liver function, Hepat... OMIM:606003
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing im... ORPHA:794
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h... OMIM:109120
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Long philtrum, Stapes ankylosis, Tetralogy of Fallot,... OMIM:614701
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, Cubitus valgus, Short nose OMIM:300577
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Delayed eru... ORPHA:87
Prolidase Deficiency
Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:170100
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia ... ORPHA:193
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Atelis Syndrome 1
Downslanted palpebral fissures, Leukopenia, Prominent nose, Lumbar kyphosis, Thrombocytopenia, An... OMIM:620184
Native American Myopathy
Bifid uvula, Congenital contracture, Downturned corners of mouth, Conductive hearing impairment, ... ORPHA:168572
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Osteoarthriti... OMIM:606069
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hern... OMIM:616331
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Wide nasal bridge, Platelet anisocytosis, Horizontal eyebrow, Broad nasal tip, Bulbous nose, Long... OMIM:620475
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Splenomegaly, Joint swelling, Hepatomegaly, Neutrophilia, Elevated cir... OMIM:612852
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Anemia, Splenomegaly ORPHA:1802
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Keratoconjunctivitis, Poikilocytosis, Unconjugated hyperbilirubinemia,... ORPHA:79277
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Widely spaced teeth, Abn... ORPHA:1071
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Neu-Laxova Syndrome
Osteopenia, Bifid uvula, Rickets, Retrognathia, Osteomalacia, Macrotia, Micrognathia, Thick vermi... ORPHA:2671
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Anteverted nares, Hydronephrosis, Epicanthus, Short nose ORPHA:1450
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Downslanted palpebral fissures, Joint hypermobility, Cervical C2/C3 vertebral ... OMIM:617333
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Enterocolitis, Hearing impairment OMIM:301108
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Low-set ears, Microtia, third degree... ORPHA:2554
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border, Posteriorly ... ORPHA:228396
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Pancytopenia, Spleno... OMIM:259700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Amish Lethal Microcephaly
Optic atrophy, Limitation of joint mobility, Cleft soft palate, Micrognathia, Decreased skull oss... ORPHA:99742
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Delayed cranial suture closure, Anteverted nares, Large fontanelles, Short... ORPHA:1832
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Ventricular septal defect, ... OMIM:608149
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Dislocated rad... OMIM:305620
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Osteopenia, Hypotriglyceridemia, Elevated circulating hepatic ... ORPHA:14
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Micrognathia, Knee flexion contracture, Cleft hard palate, Fixed... ORPHA:166016
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Long e... OMIM:301110
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Desmosterolosis
Low-set ears, Bifid uvula, Retrognathia, Abnormal earlobe morphology, Intestinal malrotation, Low... ORPHA:35107
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Depressed nasal bridge, Oligosacchariduria, Anteverted nares, Delay... ORPHA:163649
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Orofaciodigital Syndrome Xix
Low-set ears, Narrow palate, Carious teeth, Cupped ear, Retrognathia, Downturned corners of mouth... OMIM:620107
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Abnormal dental enamel morphology, ... ORPHA:439822
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Tracheomalacia, Cardiomyopathy, Long ... OMIM:212720
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hypoplasia of the maxilla, Ankle flexion contracture, Delayed eruption of teeth, Carp... OMIM:259600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Microglossia, Exaggerated median tongue furrow, Long philtrum, Cleft mandible, Micr... OMIM:608670
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Long... OMIM:618828
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Cowden Syndrome 5
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:615108
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Shprintzen-Goldberg Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Low-set ears, Conductive hearing impa... ORPHA:2462
Andersen-Tawil Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dilated cardiomyopathy, De... ORPHA:37553
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Patchy distortion of vertebrae, Vertebral clefting, Shor... OMIM:155050
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Atrial septal defect OMIM:614526
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Short neck, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Hearing impairment, Delayed pubic bone ossification, Delay... OMIM:620099
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly OMIM:615085
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Increased LDL cholesterol c... OMIM:278000
Van Maldergem Syndrome 2
Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Anteriorly placed anu... OMIM:615546
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Underdeveloped... OMIM:610377
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
W Syndrome
Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen... ORPHA:2804
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Osteopenia, Hypoplasia of the maxilla, Joint contracture of the hand, Dental malocc... OMIM:182212
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati... OMIM:618278
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Long philtrum, Abnormal heart morphology, Patent foramen ... ORPHA:457279
Lamb-Shaffer Syndrome
Broad nasal tip, Epicanthus, Fused cervical vertebrae, Scoliosis, Thoracic kyphosis ORPHA:530983
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent... OMIM:257850
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Tetralogy of Fallot, Open mouth, Su... OMIM:192430
Buratti-Harel Syndrome
Low-set ears, Bifid uvula, Velopharyngeal insufficiency, Submucous cleft hard palate, Atrial sept... OMIM:619314
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Epicanthus, Metopic synost... OMIM:300581
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of the dentition, Conductive hea... ORPHA:2095
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia... ORPHA:289916
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Cowden Syndrome 6
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:615109
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto... ORPHA:79312
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Geroderma Osteodysplasticum
Osteopenia, Hypoplasia of the maxilla, Abnormality of the dentition, Periodontitis, Malar flatten... OMIM:231070
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose, Prominent metopic ridge ORPHA:46
Shashi-Pena Syndrome
Unilateral renal agenesis, Highly arched eyebrow, Broad nasal tip, Long eyelashes, Cervical C2/C3... OMIM:617190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Mitral stenosis, S... OMIM:617660
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Cleft lip, Conical tooth, Atresia of the external auditory canal, Clef... OMIM:106260
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Immunodeficiency 46
Anemia, Conjunctivitis, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Nablus Mask-Like Facial Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of the h... OMIM:608156
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, HbH hemoglobin, Downslanted palpebral fissures, Microcytic anemia, Epicanthus,... ORPHA:98791
Acromicric Dysplasia
Delayed skeletal maturation, Bulbous nose, Abnormal eyebrow morphology, Long eyelashes, Anteverte... ORPHA:969
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic k... OMIM:619743
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Low-set ears, Optic nerve hypoplasia, Hearing impairment, Micrognathia, M... OMIM:301043
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Horse... OMIM:607330
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Conductive hearing impairment, Peg-shaped maxillary la... ORPHA:2751
Gaucher Disease, Type I
Epistaxis, Pathologic fracture, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:230800
Developmental And Epileptic Encephalopathy 73
Delayed skeletal maturation, Narrow nasal bridge, Flexion contracture, Scoliosis, Short nose OMIM:618379
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Low-set ears, Cupped ear, Anteriorly placed anus, Long philtrum, Mitral valv... OMIM:612863
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Abnormality of the dentition, Long philtrum, Micrognathia, Cleft soft palate, Gingi... OMIM:618529
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Downslanted palpebral fissures, Short neck, Hypoplasia of penis, Shor... ORPHA:217385
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombo... ORPHA:27
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Proximal/middle symphalangism of 5th finger, Long nose, Low hanging co... OMIM:184460
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Hyperplasia o... OMIM:300280
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Malar flattening, Narrow mouth, Joint hypermobility, Promine... ORPHA:2412
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Cleft upper lip, Recurrent otitis media, Micrognathia, G... OMIM:213980
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Downslanted palpebral fissures, Horseshoe kidney, Bulb... ORPHA:46059
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Atrial septal defect, High... OMIM:115150
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral b... ORPHA:1458
Van Den Ende-Gupta Syndrome
High, narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Dental crowding, C... OMIM:600920
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patellar dislocation, Genu... ORPHA:3320
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Secundum atrial septal defect, Hyperplasia of the maxilla, Micrognathia, High palate,... OMIM:620194
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal bon... ORPHA:306542
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Depressed nasal bridge, Reduced hemoglobin A, ... ORPHA:231226
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Conductive hearing impairment, Micrognat... OMIM:300990
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Lumbar hyperlordosis, Prominent nose, Anteverted nares, Prominent nasal b... OMIM:617796
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Downslanted palpebral fissures, Elevated red cell adenosine de... OMIM:300946
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Hearing impairment, Open bite, Epiphyseal s... ORPHA:950
Relapsing Fever
Epistaxis, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase... ORPHA:91547
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Abnormal dental morphology, ... OMIM:277600
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, Fl... OMIM:193700
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ... ORPHA:229717
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Craniosynostosis, Supernumerary t... OMIM:604757
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Epicanthus, Short neck, Thoracolumba... OMIM:265000
Dend Syndrome
Bilateral ptosis, Anteverted nares, Elevated hemoglobin A1c, Short nose, Prominent metopic ridge ORPHA:79134
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Bilateral ptosis, Knee dislocation, Thin eyebrow, Shoulder dislocation, Thoracic scol... OMIM:618000
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Prominent nose, Elevated circulating creatine kinase concentratio... OMIM:185070
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear OMIM:167730
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Narrow mouth, A... ORPHA:1790
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Polyarticular arthritis, Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Kbg Syndrome
Underdeveloped nasal alae, Persistent open anterior fontanelle, Delayed skeletal maturation, Tele... ORPHA:2332
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Pierpont Syndrome
Broad nasal tip, Unilateral narrow palpebral fissure, Telecanthus, Short neck, Blepharophimosis, ... OMIM:602342
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
X-Linked Agammaglobulinemia
Hepatitis, Osteomyelitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the t... ORPHA:47
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration, Wide nasal bridge ORPHA:1551
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... OMIM:613845
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Downslanted palpebral fissures, Persistence of hemoglobin F, Anteverted nares, Anterior concavity... OMIM:617101
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Short palpebral fissure, Limitation of joint mobility, Interphalangeal joint con... OMIM:151200
Braddock-Carey Syndrome 1
Wide nasal bridge, Multicystic kidney dysplasia, Downslanted palpebral fissures, Telecanthus, Ant... OMIM:619980
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Telecanthus, Acute myeloid leukemia, Thrombocytopenia, A... OMIM:619151
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Depressed nasal bridge, Sparse lateral eyebrow, Epicanthus, Blepharophimos... ORPHA:261120
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Scoliosis, Kyphosis, Short nose, Synophrys ORPHA:2429
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Nephrotic syndrome... OMIM:242900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Abnormal B cell morphology, Epicanthus, Hypospadias, Short nose OMIM:616910
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Epiphyseal stippling of toe ph... ORPHA:79345
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Conjunctival ... ORPHA:3392
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Broad nasal tip ORPHA:370010
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Abnormal joint morphology, Abnormal ly... ORPHA:47612
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia, Avascular necrosis ORPHA:141184
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Upslan... OMIM:614541
Barber-Say Syndrome
Low-set ears, Hypoplasia of the maxilla, Microtia, first degree, Dental malocclusion, Delayed eru... OMIM:209885
Marden-Walker Syndrome
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Joint stiffness, Micrognathia, ... ORPHA:2461
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Foll... OMIM:603909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, 3-Methylglutaconic aciduria, Decreased liver function ORPHA:67048
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Short nec... OMIM:609053
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Limitation of joint mobility, Cranial hyperostosis, Facial hype... ORPHA:2658
Poikiloderma With Neutropenia
Depressed nasal bridge, Sparse eyebrow, Sparse lateral eyebrow, Underdeveloped nasal alae, Leukop... OMIM:604173
Cowden Syndrome 1
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:158350
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent otitis media, Recurrent hand flapping, Submucous cleft har... OMIM:619680
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Osteopenia, Delayed skeletal maturation, Hypercalcemia, Hypercalciuria, M... OMIM:614732
Aggressive Systemic Mastocytosis
Decreased liver function, Pathologic fracture, Bone pain, Hepatosplenomegaly, Pancytopenia, Porta... ORPHA:98850
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Lympha... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Baker-Gordon Syndrome
Joint hypermobility, Epicanthus, Prominent nasal tip, Scoliosis, Short nose OMIM:618218
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ... OMIM:611881
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Submucous clef... ORPHA:3426
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hyperuricemia, Hematuria, Anemia ORPHA:510
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Congenital Rubella Syndrome
Splenomegaly, Anemia, Abnormality of the fontanelles or cranial sutures, Thrombocytopenia, Hepato... ORPHA:290
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Tolchin-Le Caignec Syndrome
Low-set ears, Umbilical hernia, Cardiac rhabdomyoma, Micrognathia, Narrow mouth, Submucous cleft ... OMIM:618971
Meier-Gorlin Syndrome 4
Low-set ears, Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth, M... OMIM:613804
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... OMIM:619463
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Broad nas... ORPHA:391372
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Short nose ORPHA:2370
Microphthalmia With Limb Anomalies
Synostosis of joints, Optic atrophy, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Syn... ORPHA:1106
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Osteolysis, Fractur... ORPHA:464329
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Stillbirth,... OMIM:241500
Elsahy-Waters Syndrome
Low-set ears, High palate, Increased cup-to-disc ratio, Hypoplasia of the maxilla, Impacted tooth... OMIM:211380
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hearing... OMIM:101800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... OMIM:604290
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Vesicoureteral reflux, Renal insufficiency, Upslanted palpebral fissure,... OMIM:617159
Even-Plus Syndrome
Highly arched eyebrow, Renal hypoplasia, Depressed nasal ridge, Bifid nasal tip, Vesicoureteral r... OMIM:616854
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Umbilical... ORPHA:1101
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Anteverted nares, Long eyelashes, Unilambdoid synostosis, Scoliosis, Ulnar dev... OMIM:618577
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Sensorineural h... OMIM:601812
Miller-Dieker Syndrome
Nephropathy, Anteverted nares, Epicanthus, Short nose, Sacral dimple ORPHA:531
Bernard-Soulier Syndrome
Epistaxis, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, M... OMIM:231200
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Abnormal eyebro... ORPHA:381
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Decreased liver function, Extramedullary hema... OMIM:617021
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Short nose, Downslanted palpebral fissures OMIM:613670
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Ptosis, Short nose ORPHA:438178
Chops Syndrome
Tracheomalacia, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesicoureteral reflux, Splenomeg... OMIM:616368
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Narrow palate, Hypoplasia of the maxilla, Tooth malposition, Umbilical her... OMIM:608328
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia OMIM:152700
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Braddock-Carey Syndrome 2
Bulbous nose, Thrombocytopenia, Downslanted palpebral fissures OMIM:619981
Meier-Gorlin Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Hearing impairment, Atres... OMIM:224690
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Delayed skeletal maturation, Delayed cranial suture closure, ... OMIM:619383
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Sh... ORPHA:1200
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Osteopenia, Shallow acetabular fossae, Giant platelets, Downslanted palpebral ... OMIM:611209
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Greenberg Dysplasia
Low-set ears, Fractured rib, Hypoplasia of the maxilla, Ectopic ossification, Retrognathia, Still... OMIM:215140
Zttk Syndrome
Low-set ears, Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Optic atrophy... OMIM:617140
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Joint contracture of the hand, Conjunctivitis, Elevated circulating u... OMIM:263700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Renal hypoplasia, Anteverted nares, Short columella, Large fontanelles, R... ORPHA:171839
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,... OMIM:619644
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, R... ORPHA:210110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Short neck, Tarsal synostosis, Popliteal pterygium, Cervical ... OMIM:178110
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Short nec... ORPHA:1830
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating hepatic transaminase... ORPHA:99826
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Kyphosis, Underdeveloped ... OMIM:619005
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Biventricular hypertroph... OMIM:617402
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Hypoplasia of the maxilla, Cleft lip, Limitation of joint mo... OMIM:139210
Hypophosphatasia
Large fontanelles, Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph... OMIM:617591
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro... ORPHA:231111
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Depressed nasal bridge, Abnormal form of the vertebral bodies, Delayed ske... ORPHA:1327
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Orofaciodigital Syndrome Type 4
Low-set ears, Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula,... ORPHA:2753
Noonan Syndrome 4
Depressed nasal bridge, Sparse eyebrow, Delayed skeletal maturation, Downslanted palpebral fissur... OMIM:610733
Johanson-Blizzard Syndrome
Underdeveloped nasal alae, Delayed skeletal maturation, Exocrine pancreatic insufficiency, Absent... ORPHA:2315
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia, Arthropathy OMIM:612952
Noonan Syndrome 12
Lymphopenia, Spinal canal stenosis, Thrombocytopenia OMIM:618624
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Unossified sacrum, Tracheomalacia, Horseshoe kidne... OMIM:608022
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Stickler Syndrome
Hearing impairment, Open bite, Micrognathia, Mitral valve prolapse, Sensorineural hearing impairm... ORPHA:828
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Capitate-hamate fusion, Knee dislocation, Genu valgu... OMIM:614078
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Rhiny
Anteverted nares, Short nose OMIM:180360
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Thick eyebrow, Upper eyelid coloboma, Ptosis, Hypospadia... OMIM:619736
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Epicanthus, Short nec... ORPHA:505248
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... OMIM:300967
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Prominent nasal bridge, Upslanted palpebral fissure, Joint hypermobility, Epican... OMIM:613544
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Increased bone mine... ORPHA:37748
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Posterior fusion of lumbosacral v... ORPHA:2064
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating hepatic transaminase concentration, Arthrogryposis multiplex congenita, Down... OMIM:301056
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating hepatic transaminase concentration, Congenital contracture, Elevated circula... OMIM:615042
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Pancytopenia, Hyperglycinemia, Hypera... OMIM:606054
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Depressed nasal bridge, Hip dislocation, Delayed skeletal maturation, Hypocholes... OMIM:608776
Idiopathic Aplastic Anemia
Epistaxis, Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutro... ORPHA:88
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Thrombocytopenia, Paris-Trousseau Type
Ptosis, Thrombocytopenia OMIM:188025
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Pelger-Huet Anomaly
Depressed nasal bridge, Giant platelets, Hyposegmentation of neutrophil nuclei, Neutropenia, Thro... OMIM:169400
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Epistaxis, Cervical lymphadenopathy, Ingui... OMIM:620514
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Abnormal form of the vertebral bodies, Genu valgum, Epicanthus, Hyperlordo... ORPHA:2831
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Delayed skeletal maturation, Elevated circulating propion... OMIM:614857
Cardiofaciocutaneous Syndrome
Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum, Macrotia, Hypertrophic cardiomyop... ORPHA:1340
Chung-Jansen Syndrome
Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Joint hypermobility, Epicanthus, Sh... OMIM:617991
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion OMIM:137550
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Anemia, Abnormal concentration of acylcarnitine in ... ORPHA:51208
Perlman Syndrome
Wide nasal bridge, Abnormal pancreas morphology, Anteverted nares, Epicanthus, Ptosis, Hepatomega... ORPHA:2849
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Hypocalcemia, Abnormal l... ORPHA:53
Osteoglophonic Dysplasia
Low-set ears, Osteopenia, Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure,... OMIM:166250
Verheij Syndrome
Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Anteverted nares, Joint hypermobility, Rena... OMIM:615583
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Mitral valve prolapse, Ventricular ... OMIM:180849
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias OMIM:612528
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Depressed nasal bridge, Underdeveloped nasal alae, High nonceruloplasmin-b... ORPHA:457351
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Loeys-Dietz Syndrome 5
Bifid uvula, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Patent foramen ovale, V... OMIM:615582
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Bowel diverticulosis, Recurrent sinusitis, Mitral valve prolapse, Joint hypermo... OMIM:130000
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Ptosis, A... OMIM:619113
Vexas Syndrome
Macrocytic anemia, Nasal chondritis, Thrombocytopenia, Arthritis, Elevated circulating C-reactive... OMIM:301054
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Hearing impairment, Low-s... ORPHA:235
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Retrognathia, Prominent crus of helix, Elbow flexion contracture, Submucous cleft h... OMIM:619194
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, ... ORPHA:3047
Acitretin/Etretinate Embryopathy
Cupped ear, Atrioventricular canal defect, Micrognathia, Conotruncal defect, Median cleft palate,... ORPHA:40366
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphol... OMIM:612840
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Bcard Syndrome
Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E... OMIM:612394
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Increased muscle glycogen content, Hyperuricemia ORPHA:371
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Retrognathia, Cleft soft palate, Underdeveloped antitragus, Smooth philtrum,... ORPHA:293725
Goldberg-Shprintzen Syndrome
Low-set ears, Hypoplasia of the maxilla, Oligodontia, Ventricular septal defect, Aganglionic mega... OMIM:609460
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... ORPHA:398124
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Coronal craniosynostosis, Cholelithiasis, Severe B lymphocytopenia, Pancreatic... ORPHA:83617
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Epicanthus, Blepharophimosi... ORPHA:261144
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Lymphadenopathy, Art... OMIM:607115
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Epicanthu... OMIM:614069
Opsismodysplasia
Depressed nasal bridge, Delayed skeletal maturation, Abnormally ossified vertebrae, Joint stiffne... ORPHA:2746
Apert Syndrome
Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, S... OMIM:101200
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Smith-Kingsmore Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Thrombocytopenia, Wide anterior fontanel,... OMIM:616638
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabec... ORPHA:1775
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Epicanthus, Narrow palpebr... OMIM:617752
Craniodigital-Intellectual Disability Syndrome
Long eyelashes, Thick eyebrow, Narrow nasal bridge, Spina bifida occulta, Short nose ORPHA:1514
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Delayed skeletal matur... OMIM:260400
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Anemia, Elevated circulating... ORPHA:457077
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Prominent nasal bridge, Limited elbow extensio... ORPHA:401935
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Horseshoe kidney, Hepatosplenomegaly, Anteverted nares, Leukocytosis, Vesicour... OMIM:274000
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hearing impairment, Cleft soft palate, Micrognathia, Submucous cleft soft palate, Microtia ORPHA:2282
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Optic disc pallor, ... OMIM:617523
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hyperammonemia, Neonatal death, Hypo... OMIM:610015
Takenouchi-Kosaki Syndrome
Eversion of lateral third of lower eyelids, Unilateral renal agenesis, Sparse eyebrow, Highly arc... OMIM:616737
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Frontometaphyseal Dysplasia
Wide nasal bridge, Joint contracture of the hand, Interphalangeal joint contracture of finger, Do... ORPHA:1826
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Diamond-Blackfan Anemia 1
Depressed nasal ridge, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean ... OMIM:105650
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Antever... OMIM:613604
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Depressed nasal bridge, Bone marrow hypocellularity, Ketonuria, Thrombocytopenia, ... OMIM:614520
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... OMIM:300166
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Everted lower lip vermili... OMIM:620450
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Low-set ears, H... OMIM:101400
Cerebrocostomandibular Syndrome
Low-set ears, Anal stenosis, Carious teeth, Cleft lip, Conductive hearing impairment, Anteriorly ... OMIM:117650
Dubowitz Syndrome
Low-set ears, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of... OMIM:223370
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge, Epiphyseal stippling, Hepatomegaly, Increased circulating very long-chain fatt... OMIM:614859
Duane-Radial Ray Syndrome
Choanal atresia, Renal hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Abnormal nasoph... OMIM:607323
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Camptodactyly,... OMIM:113000
Bartsocas-Papas Syndrome 1
Tessier cleft, Low-set ears, Hypoplasia of the maxilla, Anal stenosis, Cupped ear, Cleft upper li... OMIM:263650
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Low-set ears, Micrognathia, Posteriorly rotated ears OMIM:606851
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal verte... OMIM:118100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wide nasal bridge, Osteopenia, Fractured radius, Telecanthus, Anteverted nares, De... OMIM:616897
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Delayed skeletal maturation, Dysplastic ... OMIM:613320
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Mend Syndrome
Aortic valve stenosis, Asymmetry of the mouth, Low-set ears, Abnormal auditory evoked potentials,... ORPHA:401973
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Thoracic platyspondyly, Anteverted nares, Increased intervertebral space,... OMIM:618961
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Increased bone mineral density, Refrac... OMIM:231095
Peho-Like Syndrome
Epicanthus, Short nose OMIM:617507
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Proteinuria, Hypercalcemia, Renal insufficiency ORPHA:2668
Thakker-Donnai Syndrome
Bulbous nose, Anteverted nares, Upslanted palpebral fissure, Cervical C2/C3 vertebral fusion, Lon... ORPHA:1780
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Wilson Disease
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos... OMIM:277900
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Tracheomalacia, Micrognathia, Narrow ... OMIM:613803
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Cinca Syndrome
Joint dislocation, Abnormality of thrombocytes, Abnormal joint morphology, Leukocytosis, Splenome... ORPHA:1451
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperuricemia, Prot... OMIM:613092
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Delayed skeletal maturation, Increased HbA2 hemoglobin, Increased bone ... OMIM:616943
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Narrow palate, ... OMIM:614188
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate... OMIM:243500
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Lymphopenia, Penile freckling, Splenomegaly, Joint hypermobility, Epicant... OMIM:605309
Recon Progeroid Syndrome
Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Joint hypermobility, Narrow ... OMIM:620370
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Telecanthus, Abs... ORPHA:1791
Fetal Trimethadione Syndrome
Depressed nasal bridge, Epicanthus, Ptosis, Scoliosis, Hypospadias, Short nose, Synophrys ORPHA:1913
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Proximal tubu... OMIM:614576
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Delayed skeletal maturation, Anteverted nares, Epicanthus, Aplasia/Hypoplasia of the eyebrow, Abn... ORPHA:2701
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Lig4 Syndrome
Wide nasal bridge, Pancytopenia, Prominent nose, Upslanted palpebral fissure, Epicanthus, Thrombo... OMIM:606593
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Tarsal synostosis, Metatarsal synos... ORPHA:2756
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Delayed skeletal maturation, Persistence of hemoglobin F, Macrocytic... OMIM:620501
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro... OMIM:614105
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Choanal atresia, Depressed nasal bridge, Osteopenia, Hepatitis, Pancreatic hypo... OMIM:610199
Walker-Warburg Syndrome
Low-set ears, Bifid uvula, Optic atrophy, Submucous cleft hard palate, Protruding ear, Posteriorl... ORPHA:899
Campomelic Dysplasia
Delayed epiphyseal ossification, Low-set ears, Carious teeth, Hearing impairment, Contracture of ... OMIM:114290
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... ORPHA:90060
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Pancyto... OMIM:251110
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Hydropic placenta, Sh... OMIM:275210
Tetrasomy 12P
Sparse eyebrow, Delayed skeletal maturation, Telecanthus, Anteverted nares, Upslanted palpebral f... ORPHA:884
Atelosteogenesis, Type I
Depressed nasal bridge, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Neonatal dea... OMIM:108720
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Retrognathia, Abnormal lip morphology, Macroti... ORPHA:171929
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Ventricular ... OMIM:617602
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia... OMIM:259720
3Mc Syndrome 2
Downturned corners of mouth, Cleft upper lip, Hearing impairment, Joint hypermobility, Limited el... OMIM:265050
Ruvalcaba Syndrome
Synostosis of carpal bones, Downslanted palpebral fissures, Abnormal vertebral epiphysis morpholo... ORPHA:3121
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Downslanted palpebral fissures, Bulbous nose, Telecanthus, Almond-shaped palpe... OMIM:620292
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Bulbous nose, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele... OMIM:618048
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran... ORPHA:275555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... OMIM:606612
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Wide nasal bridge, Renal hypoplasia, Short palpebral fissure, Hypermobility of interphalangeal jo... ORPHA:508498
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Ventricular septal defect, Sensorineural hearing impairment, Bi... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... OMIM:603585
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Ptos... OMIM:222300
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Cervical C5/C6 vertebrae fusion, Short nose, Bulbous n... OMIM:613458
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemi... ORPHA:292
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Renal hypoplasia, Trichiasis, Lymphopenia, Vesicoureteral reflux, Hydronep... OMIM:618460
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration... OMIM:620366
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose OMIM:200130
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Depressed nasal bridge, Osteopenia, Delayed skeletal maturation, Delayed ossificat... OMIM:271510
Sengers Syndrome
Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia OMIM:212350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Depressed nasal bridge, HbH hemoglobin, Anteverted nares, Kyphoscoliosis, Hydronephr... OMIM:301040
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscu... OMIM:617052
Mirage Syndrome
Hypospadias, Scoliosis, Microphallus, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, An... OMIM:617053
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Downslanted palpebral fissures, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:333
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of external ear ORPHA:2399
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Joint hypermobility,... OMIM:249620
Fetal Valproate Spectrum Disorder
Epicanthus, Depressed nasal ridge, Short nose ORPHA:1906
Acute Promyelocytic Leukemia
Epistaxis, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Throm... ORPHA:520
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Biventricular hypertrophy, Median pseudocleft lip, Recurrent ot... OMIM:616462
Hermansky-Pudlak Syndrome 2
Wide nasal bridge, Reduced natural killer cell count, Enlarged platelet dense granules, Hepatospl... OMIM:608233
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Anemia, Reticulocy... OMIM:275350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, De... ORPHA:508533
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Craniofacial osteosclerosis, Osteomyelitis, Anemia, Abnormal sacro... ORPHA:324964
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4... OMIM:617241
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... ORPHA:3258
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ... OMIM:251100
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Upslanted palpebral fissure, Epicanthus, Short neck, Pancreatic fi... OMIM:200995
Diamond-Blackfan Anemia
Wide nasal bridge, Depressed nasal bridge, Macrocytic dyserythropoietic anemia, Increased mean co... ORPHA:124
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Hip dislocation, Limitation of joint mobility, Abnormal form of the verte... ORPHA:3098
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Scoliosis, Thrombocytopenia OMIM:616577
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Restrictive Dermopathy
Low-set ears, Osteopenia, Microcolon, Natal tooth, Camptodactyly of finger, Temporomandibular joi... ORPHA:1662
Castleman Disease
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Anemia, Generalized... ORPHA:160
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Pathologic frac... ORPHA:635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Anemia, Hepatomegaly, Recurrent fractures OMIM:618107
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Blephar... OMIM:611936
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... ORPHA:331206
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Limited pronation/supination of fore... OMIM:605432
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Epicanthus, Anemia, Reticulocytopeni... OMIM:227645
Femoral-Facial Syndrome
Long penis, Scoliosis, Upslanted palpebral fissure, Vertebral segmentation defect, Radioulnar syn... ORPHA:1988
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Koolen-De Vries Syndrome
Wide nasal bridge, Hip dislocation, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Pr... ORPHA:96169
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Bifid uvula, Hypoplasia of the maxilla, Optic atrophy, Downturned corners of mouth,... ORPHA:500150
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Joint hypermobility, Epicanthus, Cubitus valgus, Ptosis, Spina... ORPHA:1185
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Underdeveloped nasal alae, Telecanthus, Decreased skull ossification, Epican... OMIM:263210
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Camptodactyly of finger, Anteverted ... ORPHA:1716
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Limitat... ORPHA:90650
Shwachman-Diamond Syndrome
Aplastic anemia, Abnormal joint morphology, Pancytopenia, Increased serum bile acid concentration... ORPHA:811
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Camptodactyly of finge... ORPHA:2083
Kenny-Caffey Syndrome, Type 1
Delayed skeletal maturation, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Delayed ... OMIM:244460
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Hyponatremia, Camptodactyly, Thrombocyto... ORPHA:79325
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Punctate vertebral calcifications, Anteverted nares, Epi... ORPHA:1914
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia OMIM:620365
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic tran... OMIM:557000
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... ORPHA:480520
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short neck, Spina bifida occulta, Hypoplasia of penis, Reduced bone mineral density,... ORPHA:2983
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Opsismodysplasia
Renal phosphate wasting, Depressed nasal bridge, Hypoplasia of the odontoid process, Anteverted n... OMIM:258480
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macroth... OMIM:187900
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Recurrent sinusitis, Generalized lymphad... OMIM:614700
Dengue Fever
Epistaxis, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukem... OMIM:614742
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Depressed nasal bridge, Osteopenia, Delayed skeletal maturation, Limited elbow ext... OMIM:616723
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia, Acetabular dysplasia OMIM:618313
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Hepatic failure, Hepatosplenomegaly, Anteverted nares, Splenomegaly, Neon... OMIM:608013
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Vertebral segmentation defect, Vertebral fusion, Sac... OMIM:618845
Cardiospondylocarpofacial Syndrome
Wide nasal bridge, Delayed skeletal maturation, Carpal synostosis, Horseshoe kidney, Bulbous nose... OMIM:157800
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Organic aciduria, Hyperammonemia, Thrombocytopenia ORPHA:79242
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Horizontal eyebrow, ... ORPHA:369891
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Osteopenia, Bifid uvula, Rickets, Retrognathia, Osteomalacia, Micrognathia, Malar f... ORPHA:2636
Snakebite Envenomation
Hyponatremia, Epistaxis, Acute kidney injury, Thrombocytopenia ORPHA:449285
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa... ORPHA:98849
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Underdeveloped nasal alae, Downslanted palpebral fissures, Bilateral ptosis, Ove... ORPHA:163979
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonem... OMIM:251000
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Larg... ORPHA:440713
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He... ORPHA:454836
Primrose Syndrome
Hearing impairment, Narrow mouth, Hip contracture, Torus palatinus, Tics, High palate, Restlessne... OMIM:259050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Downslanted palpebral fissures, Telecanthus, Joint hypermobi... OMIM:615539
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Long eyelashes, Hyperprolinemia, Hyperal... OMIM:619064
Overlap Myositis
Elevated circulating hepatic transaminase concentration, Rheumatoid arthritis, Abnormal circulati... ORPHA:206572
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Ankle clo... OMIM:308230
Tetrasomy 18P
Epicanthus, Scoliosis, Short nose, Downslanted palpebral fissures ORPHA:3307
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Small anterior fontanelle, Splenomegaly,... ORPHA:525731
Trisomy 20P
Abnormality of the ureter, Epicanthus, Short neck, Blepharophimosis, Hypospadias, Short nose, Dow... ORPHA:261318
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Anal stenosis, Anteriorly placed anus, Clef... OMIM:604292
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Intellectual Disability-Strabismus Syndrome
Highly arched eyebrow, Depressed nasal bridge, Joint contracture of the hand, Limitation of joint... ORPHA:363528
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Anteverted nares, Short nose OMIM:618506
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Floating-Harbor Syndrome
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Carious teeth, Conductive hear... ORPHA:2044
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pterygium, Pancytopenia, Sparse e... OMIM:224230
Cebalid Syndrome
Highly arched eyebrow, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissu... OMIM:618774
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Elevated circulating hepatic transaminase concentration, Decreased liver ... OMIM:614883
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Anteverted nares, Limi... ORPHA:363659
Down Syndrome
Atlantoaxial dislocation, Depressed nasal ridge, Depressed nasal bridge, Polycythemia, Delayed sk... ORPHA:870
Desbuquois Dysplasia 1
Platyspondyly, Depressed nasal bridge, Joint dislocation, Advanced tarsal ossification, Joint hyp... OMIM:251450
Von Willebrand Disease, Type 3
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Antever... OMIM:619859
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Short palpebral fissure, Sparse eyebrow, Depressed n... OMIM:620654
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Anteverted nar... OMIM:251290
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Conductive hearing impairment, Cleft upper ... OMIM:129900
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Bainbridge-Ropers Syndrome
Large fontanelles, Epicanthus, Short nose, Broad nasal tip, Downslanted palpebral fissures, Long ... OMIM:615485
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal heart morphology,... OMIM:154500
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Wide nose, Galactosuria, Depressed n... OMIM:222470
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Wide anterior fontanel, Anteverted nares, Kyphosis, Sacral dimple, Enlarg... OMIM:618272
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Prominent nose, Anteverted nare... OMIM:618316
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re... ORPHA:83313
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Short nose OMIM:618618
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal... ORPHA:54251
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Von Willebrand Disease
Epistaxis, Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Joint hemorrhage, Ab... ORPHA:903
Diamond-Blackfan Anemia 21
Horizontal eyebrow, Downslanted palpebral fissures, Genu valgum, Erythroid hypoplasia, Cubitus va... OMIM:620072
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Hereditary Orotic Aciduria
Aminoaciduria, Wide nasal bridge, Downslanted palpebral fissures, Oroticaciduria, Abnormality of ... ORPHA:30
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Thick ey... OMIM:617061
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Short palpebral fissure, Capitate-hamate fusion, Metatar... OMIM:206920
Peters-Plus Syndrome
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Ventricular septal defect... OMIM:261540
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depressed nasal ridge, Telecanthus, Anteverted nares, Joint stiffness, Abnormal hemoglobin, Hydro... ORPHA:847
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... OMIM:620005
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Sparse or ... ORPHA:1234
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... ORPHA:26791
Atelis Syndrome 2
Short palpebral fissure, Bulbous nose, Prominent nose, Dacryocystocele, Epicanthus, Thrombocytope... OMIM:620185
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Delayed... OMIM:222700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Congenital hip dislocation, Hypoplasia o... OMIM:616007
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Epiphyseal stippling, Short... OMIM:302950
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ... OMIM:157170
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Attention deficit hyperactivity disorder, Atrial septal defect, Comp... OMIM:618891
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Joint contracture, Scoliosis, Short nose OMIM:615419
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Coronal craniosynostosis, Bilat... OMIM:145420
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Ptosis, Thrombocytopeni... ORPHA:169105
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Umbilical hernia... ORPHA:920
Frontometaphyseal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Congenital hip dislocation, Broad nasal tip, Downslant... OMIM:617137
Zika Virus Disease
Ankle swelling, Wrist swelling, Arthritis, Thrombocytopenia, Conjunctivitis ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration, Hyperlordosis... OMIM:607155
Immune Thrombocytopenia
Hematuria, Epistaxis, Thrombocytopenia ORPHA:3002
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Viss Syndrome
Low-set ears, Micrognathia, Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, ... OMIM:619472
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Rickets, Hearing impairment, Abnormal mandible morphology, O... ORPHA:249
Stt3B-Cdg
Micropenis, Thrombocytopenia ORPHA:370924
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
21Q22.11Q22.12 Microdeletion Syndrome
Short palpebral fissure, Delayed skeletal maturation, Downslanted palpebral fissures, Bulbous nos... ORPHA:261323
Cartilage-Hair Hypoplasia
Epicanthus, Short neck, Neutropenia, Abnormal bone ossification, Hepatomegaly, Depressed nasal ri... ORPHA:175
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Thick eyebrow, Ptosis, White eyebrow, ... ORPHA:894
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Large placenta, Narrow mouth, Ventricular septal defect, Atrial septal defect, Hypo... ORPHA:96334
Jacobsen Syndrome
Depressed nasal bridge, Annular pancreas, Telecanthus, Anteverted nares, Eyelid coloboma, Epicant... OMIM:147791
Shigellosis
Hepatic failure, Acute kidney injury, Microangiopathic hemolytic anemia, Cholestasis, Urethritis,... ORPHA:810
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Epicanthus, Short nose, Unilateral ptosis, Lagophthalmos OMIM:614744
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Eversion of lateral third of lower eyelids, Unilateral renal agenesis, Sparse eyebrow, Highly arc... ORPHA:487796
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Abnormality of ... ORPHA:819
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Hepatic failure, Thrombocytopenia ORPHA:49566
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Depressed nasal bridge, Nephrocalcinosis, Osteopenia, Hydroureter, U... OMIM:615398
Sepsis In Premature Infants
Oliguria, Decreased liver function, Leukocytosis, Splenomegaly, Reversible renal failure, Anemia,... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia OMIM:615597
Baraitser-Winter Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Epicanthus, Short neck, Long palpebra... OMIM:243310
White-Kernohan Syndrome
Depressed nasal bridge, Short palpebral fissure, Hydroureter, Horizontal eyebrow, Underdeveloped ... OMIM:619426
Donnai-Barrow Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Proteinuria, Short nose, Wide anterior fo... ORPHA:2143
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Delayed skeletal maturation, Short nose, Camptodactyly of finger ORPHA:1495
Mosaic Trisomy 20
Spinal canal stenosis, Horseshoe kidney, Upslanted palpebral fissure, Vertebral segmentation defe... ORPHA:1724
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Anteverted nares, Wormian bones, Craniosynostosis, Wide anterior ... OMIM:601853
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Decreased liver function, Elevated circulating aspartate aminotransferas... OMIM:608779
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downslanted palpebral fissures, Anteverted nares, Wide nose, Kyphoscoliosis, Joint hypermobility,... ORPHA:391408
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Velopharyngeal insufficiency, Tetralogy of Fallot, Large earlo... OMIM:619325
Deeah Syndrome
Short palpebral fissure, Delayed skeletal maturation, Exocrine pancreatic insufficiency, Epicanth... OMIM:619004
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
Ogden Syndrome
Flared nostrils, Palpebral thickening, Large posterior fontanelle, Delayed cranial suture closure... OMIM:300855
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con... OMIM:614886
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... OMIM:619950
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Decreased liver function, Anteverted nares, Upslanted palpebral fissure, Prolo... OMIM:618437
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Joint dislocation, Increased susceptibility to fractures, Multiple pterygi... OMIM:312150
Neuroocular Syndrome 1
Low-set ears, Short uvula, Retrognathia, Downturned corners of mouth, Umbilical hernia, Widely sp... OMIM:619539
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Anteverted nares, Upslanted palpebral f... ORPHA:261250
Neonatal Adrenoleukodystrophy
Wide nasal bridge, Abnormality of the liver, Anteverted nares, Ptosis, Wide anterior fontanel ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:611126
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin c... OMIM:611489
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Mogs-Cdg
Optic atrophy, Retrognathia, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hyp... ORPHA:79330
Peroxisome Biogenesis Disorder 7A (Zellweger)
Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con... OMIM:614872
Antley-Bixler Syndrome
Choanal atresia, Delayed cranial suture closure, Downslanted palpebral fissures, Camptodactyly of... ORPHA:83
Pediatric Systemic Lupus Erythematosus
Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Dark urine, Renal insuffic... ORPHA:93552
Ivic Syndrome
Synostosis of carpal bones, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopeni... ORPHA:2307
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Telecanthus, Genu valgum, Joint stiffness, Abnormal nostril morphology, Hypoplasia of pe... ORPHA:1295
Harel-Yoon Syndrome
Scoliosis, Upslanted palpebral fissure, Short nose OMIM:617183
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase conce... OMIM:618775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Reduced natural killer cell count, Anteverted nares, Epicanthus, T lympho... OMIM:242860
Marden-Walker Syndrome
Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Anteverted nares, Epican... OMIM:248700
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... ORPHA:2686
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Upslanted palpebral fissure, Short nose, Synophrys OMIM:300143
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia OMIM:613987
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Nephrocalcinosis, Kyphoscoliosis, Neutropenia, Joint contracture, ... OMIM:618005
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Joint stiffness, Portal hypertension, Splenomegaly,... ORPHA:465508
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Urethra... OMIM:613989
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, T... OMIM:600501
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Odontochondrodysplasia
Platyspondyly, Depressed nasal bridge, Joint hypermobility, Scoliosis, Short nose ORPHA:166272
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hepatic steatosis, Short nose ORPHA:210548
Edinburgh Malformation Syndrome
Choanal atresia, Joint stiffness, Anteverted nares, Accelerated skeletal maturation, Short nose, ... ORPHA:1895
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Avascular nec... OMIM:613990
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Shallow orbits, Short nose, Downslanted palpebral fissures ORPHA:1129
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxi... ORPHA:199302
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Microangiopathic he... ORPHA:244242
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, S... OMIM:620250
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Oslam Syndrome
Anemia, Radioulnar synostosis OMIM:165660
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Spinal canal stenosis, Anteverted nares, Advanced ossification of carpal ... OMIM:614613
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Achondroplasia
Thoracolumbar kyphosis, Depressed nasal bridge, Hip joint hypermobility, Cervical spinal canal st... ORPHA:15
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Hydronephrosis, Short ... ORPHA:7
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Cervical kyphosis, Functional abnormality of the bladder, Arthrogryposi... ORPHA:2953
Achondrogenesis
Abnormal enchondral ossification, Anteverted nares, Short neck, Abnormality of bone mineral densi... ORPHA:932
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Low-set ... OMIM:301022
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Short nose OMIM:300558
Blue Rubber Bleb Nevus
Pathologic fracture, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Tracheomalacia, Downslanted palpebral fissu... ORPHA:444077
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Short nose OMIM:613443
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Wide nasal bridge, Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly,... OMIM:612541
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... OMIM:164210
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Anteverted nares, Epicanthus, Ptosis, Shor... OMIM:618619
Fibrochondrogenesis 1
Platyspondyly, Depressed nasal bridge, Joint contracture of the hand, Stillbirth, Anteverted nare... OMIM:228520
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Multiple renal cysts, Abnormal vertebr... ORPHA:66637
Alg12-Cdg
Hypoalbuminemia, Hypospadias, Elevated circulating hepatic transaminase concentration, Hypocholes... ORPHA:79324
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormality of the urethra, Convex nasal ridge, Short nose ORPHA:2145
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Fetal Alcohol Syndrome
Telecanthus, Anteverted nares, Joint stiffness, Vertebral segmentation defect, Epicanthus, Ptosis... ORPHA:1915
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Recurrent upper respiratory tract infections, Splenomegaly OMIM:620296
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Acetabular dy... OMIM:619833
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Platyspondyly, Depressed nasal bridge, Osteopenia, Delayed skeletal maturation, Thoracic platyspo... ORPHA:457395
Jacobsen Syndrome
Wide nasal bridge, Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, A... ORPHA:2308
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Synostosis of carpal bones, Downslanted palpebral fissures, Accessory carpal b... OMIM:311300
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Joint dislocation, Increased susceptibility to fractures, Multiple pterygi... OMIM:253290
Diamond-Blackfan Anemia 10
Choanal atresia, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Ectopic... OMIM:613309
Congenital Syphilis
Periostitis, Optic atrophy, Hearing impairment, Hyperplasia of the maxilla, Large placenta, Synov... ORPHA:499009
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:619525
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Cartilage-Hair Hypoplasia
Sparse eyebrow, Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Limited el... OMIM:250250
Au-Kline Syndrome
Chronic kidney disease, Bifid nasal tip, Sparse lateral eyebrow, Underdeveloped nasal alae, Downs... OMIM:616580
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Anteverte... OMIM:617201
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Ankle swelling, Cervical lymphadenopathy,... ORPHA:514
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Renal insufficiency, Proteinuria, Lumbar kyphosis, Megaloblastic anemia, An... OMIM:618882
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Decreased liver function, Elevated circulating creatine kinase concentration OMIM:618835
Distal Deletion 10Q
Wide nasal bridge, Acute kidney injury, Functional abnormality of the bladder, Downslanted palpeb... ORPHA:96148
5Q14.3 Microdeletion Syndrome
Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Short nose ORPHA:228384
Keratoconus Posticus Circumscriptus
Short neck, Vesicoureteral reflux, Limited elbow extension and supination, Abnormal vertebral seg... OMIM:244600
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Limitation of joint mobility, Ureteral stenosis, Ectropion, Anteverted na... ORPHA:2719
Tangier Disease
Ectropion, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange... ORPHA:31150
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Decreased liver function, Elevated circulating creatine kinase concentration OMIM:618839
C Syndrome
Wide nasal bridge, Fused sternal ossification centers, Delayed skeletal maturation, Anteverted na... OMIM:211750
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Delayed skeletal maturation, Downslanted palpebral fissures, Anteverted nares, Spondy... OMIM:617877
Meckel Syndrome, Type 8
Depressed nasal ridge, Short neck, Polycystic kidney dysplasia, Enlarged kidney, Short nose OMIM:613885
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts OMIM:613824
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Short palpebral fissure, Tracheomalacia, Telecanthus, Anteverted nares, S... OMIM:217980
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Lymph... ORPHA:167
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Reduced bone mineral density, Increased susceptibility to frac... ORPHA:561
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Delayed skeletal maturation, Narrow nasal bridge, Wrist hypermobility, Joint hypermobility, Finge... ORPHA:544503
Cockayne Syndrome Type 1
Abnormality of the dentition, Optic atrophy, Foot joint contracture, Hearing impairment, Widely s... ORPHA:90321
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Avascular necrosis of the capital femoral epiphys... OMIM:619377
Eosinophilic Gastroenteritis
Hypoalbuminemia, Allergic rhinitis, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-re... ORPHA:2070
Schneckenbecken Dysplasia
Platyspondyly, Advanced ossification of carpal bones, Stillbirth, Advanced tarsal ossification, N... OMIM:269250
Cerebrofaciothoracic Dysplasia
Downslanted palpebral fissures, Thick eyebrow, Wide nose, Vertebral segmentation defect, Epicanth... ORPHA:1394
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Anteverted nares, Vesicoureteral reflux, Upslanted palpebral fissure, Hydroneph... OMIM:613735
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent eyelashes, Prominent nasal bridge, Upslanted palpebral fissure, Hydr... OMIM:619179
Anauxetic Dysplasia 3
Platyspondyly, Depressed nasal bridge, Genu valgum, Joint hypermobility, Broad eyebrow, Beaking o... OMIM:618853
Gapo Syndrome
Depressed nasal bridge, Sparse eyebrow, Delayed skeletal maturation, Delayed cranial suture closu... OMIM:230740
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Hypoplasia of the maxilla, Carious teeth, Oste... OMIM:182250
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Abnormal hip joint morphology, Abnormalit... ORPHA:85408
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep... OMIM:226300
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Short nose ORPHA:833
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Elevated circulating hepatic transaminase concentration, Contractures of the large jo... ORPHA:329178
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Urinary incontin... ORPHA:268882
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... OMIM:254900
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Elbow dislocation, Pterygium, Anteverted nares, Craniosynostosis, Short nose ORPHA:93329
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Choanal atresia, Short palpebral fissure, Depressed nasal bridge, Downslanted palpebral fissures,... ORPHA:284169
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Hydroureter, Camptodactyly of finger, Hypoplasia of penis, Short nose ORPHA:2547
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Micropenis, Flexio... OMIM:613870
Achondrogenesis Type 1A
Abnormal enchondral ossification, Anteverted nares, Short neck, Recurrent fractures, Short nose ORPHA:93299
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Congenital hepatic fib... ORPHA:2031
3-Methylglutaconic Aciduria, Type Viib
Bulbous nose, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutr... OMIM:616271
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Epicanthus, Accelerated skeletal maturation, Scoliosis, Sho... OMIM:618430
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicoureteral reflux, T... OMIM:603467
20P13 Microdeletion Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Prominent nasal bridge, Narro... ORPHA:313781
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Long eyelashes... OMIM:615803
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Osteomyelitis, Renal i... ORPHA:36234
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Broad nasal tip, Delayed skeletal maturation... OMIM:272460
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Upslanted palpebral fissure, Short nose OMIM:615716
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Abnormal auditory evoked potentials, Irregular dentition, Sensorineural hear... OMIM:619260
Raine Syndrome
Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Hydroureter, Downslanted palpebra... OMIM:259775
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Sparse lateral eyebrow, Downslanted palpebral fissures, Telecanthus, Ante... ORPHA:314655
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Anal stenosis, Oligodontia, Thin upper lip vermilion, Hypodontia, Shor... OMIM:180500
Nijmegen Breakage Syndrome
Depressed nasal bridge, Acute leukemia, Prominent nose, Prominent nasal bridge, Autoimmune hemoly... ORPHA:647
Lateral Meningocele Syndrome
Downslanted palpebral fissures, Telecanthus, Sclerosis of skull base, Biconcave vertebral bodies,... OMIM:130720
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Irregular dentition, V... OMIM:602535
Gaucher Disease
Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive protein concentration, Hepato... ORPHA:355
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Wide nasal bridge, Depressed nasal bridge, Polysplen... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Gaucher Disease Type 3
Delayed skeletal maturation, Pancytopenia, Splenomegaly, Increased susceptibility to fractures, H... ORPHA:77261
Ivic Syndrome
Carpal synostosis, Leukocytosis, Limited elbow movement, Carpal bone hypoplasia, Radioulnar synos... OMIM:147750
Leukodystrophy, Hypomyelinating, 10
Prominent eyelashes, Downslanted palpebral fissures, Bulbous nose, Anteverted nares, Upslanted pa... OMIM:616420
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... ORPHA:29073
Koolen-De Vries Syndrome
Hip dislocation, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Spondylolisthesis, ... OMIM:610443
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi... OMIM:600901
Achondrogenesis Type 1B
Short neck, Anteverted nares, Abnormal enchondral ossification, Short nose ORPHA:93298
Saul-Wilson Syndrome
Platyspondyly, Hypoplasia of the odontoid process, Narrow nasal bridge, Madelung deformity, Neutr... OMIM:618150
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Downslanted palpebral fissures, Anteverted nares, Joint hypermobility... OMIM:219200
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave... OMIM:259420
Fanconi Anemia, Complementation Group P
Short palpebral fissure, Horseshoe kidney, Bulbous nose, Pancytopenia, Blepharophimosis, Anemia, ... OMIM:613951
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Bulbous nose, Thick eyebrow, Abnormal intrahepatic bile duct morphology,... ORPHA:485405
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... ORPHA:508542
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Widely patent fontanelles and sutures, Increased density of long bones, H... OMIM:269150
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Conjunctivitis, Cholestasis, Elevated circulating aspartate aminotransferase co... OMIM:620376
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Low-set, posteriorly rota... ORPHA:2166
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Splenomegaly, Hyperphosphaturia, Anemia, Hypophosphatemia, Hypercalciuria, Polyuri... OMIM:239200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Epicanthus, Congenital ptosis, Urinary incontinence, Slanting of the palpebral fis... ORPHA:476126
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Scoliosis, Upslanted palpebral fissure, 3-Methylglutaconic aciduria, Short nose ORPHA:496790
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Epicanthu... ORPHA:2916
Robinow Syndrome, Autosomal Recessive 1
Thoracic hemivertebrae, Delayed cranial suture closure, Epicanthus, Short neck, Thoracolumbar sco... OMIM:268310
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... ORPHA:94093
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Small fontanelle, Contr... ORPHA:3078
Trisomy 12P
Wide nasal bridge, Delayed skeletal maturation, Thick eyebrow, Epicanthus, Short neck, Short nose ORPHA:1699
Acrofrontofacionasal Dysostosis 2
Downslanted palpebral fissures, Ptosis, Hypospadias, Wide anterior fontanel, Sacral dimple, Wide ... OMIM:239710
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Aplastic anemia, Short neck, Thrombocytopenia, Micropenis OMIM:300514
Acromelic Frontonasal Dysostosis
Low-set ears, Cleft upper lip, Encephalocele, Submucous cleft soft palate, Midline facial cleft, ... OMIM:603671
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Progressive clavicular acroosteolysis, Stage 5 chronic kidney dis... OMIM:608612
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired ara... OMIM:601399
Fibular Hemimelia
Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Joint stiff... ORPHA:93323
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Sparse eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Anteverted... OMIM:613026
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Horizontal eyebrow, Bulbous nose, Epicanthus, Short neck, Narrow palpebral fis... OMIM:618571
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Shoulder flexion contracture, Downslanted palpebral fissures, Elbow flexion co... OMIM:620369
Sweeney-Cox Syndrome
Wide nasal bridge, Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Short columella, ... OMIM:617746
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi... OMIM:227650
Wiskott-Aldrich Syndrome
Nephropathy, Epistaxis, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lympho... ORPHA:906
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Small anterior fontanelle, Long eyelashes, Sho... OMIM:617802
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Prolonged neonatal jaun... OMIM:613038
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Underdeveloped nasal alae... OMIM:615866
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Cornelia De Lange Syndrome 1
Short neck, Dislocated radial head, Ectopic kidney, Hypospadias, Choanal atresia, Delayed skeleta... OMIM:122470
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ... ORPHA:357058
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Hyperplasia of the maxilla, Everted upper lip vermilion, Absent cupid's bow, Wide... ORPHA:513456
Hoyeraal-Hreidarsson Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm... OMIM:617941
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles... OMIM:615486
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocyto... OMIM:614074
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Absent earlobe, Osteo... ORPHA:3455
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Broad nasal tip, Downslanted palpebral fissures, Abnormal circulating... ORPHA:357074
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias OMIM:250790
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal renal corticomedu... OMIM:617397
Zellweger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hepatic failure, Multicystic kidney dysplasia, Epiphys... ORPHA:912
Tetrasomy 5P
Wide nasal bridge, Anteverted nares, Upslanted palpebral fissure, Epicanthus, Short neck, Wide an... ORPHA:3309
16P11.2P12.2 Microdeletion Syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Bulbous nose, Anteverted nares, Absent n... ORPHA:261211
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... OMIM:301068
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Multicystic kidney dysplasia, Anteverted nares, Upslanted palpebral fissu... OMIM:257300
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Stevens-Johnson Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati... ORPHA:36426
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Hyperplasia of the maxilla, Long philtrum, Micrognathia, Thin bo... OMIM:612731
Kbg Syndrome
Underdeveloped nasal alae, Downslanted palpebral fissures, Delayed skeletal maturation, Telecanth... OMIM:148050
Jaberi-Elahi Syndrome
Depressed nasal bridge, Sparse eyebrow, Joint stiffness, Sparse eyelashes, Joint hypermobility, S... OMIM:617988
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,... ORPHA:464343
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Anterior atlanto-oc... ORPHA:536467
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hepatosplenome... ORPHA:781
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Downslanted palpebral fissures, Urolithiasis, Renal insufficiency, Gout, ... OMIM:300661
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Holocarboxylase Synthetase Deficiency
Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, 3-hydroxyisoval... OMIM:253270
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Epicanthus, Short neck, Euryblepharon, Hypospadias, Hip dislocation, Epispadia... ORPHA:3107
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Cupped ear, Delayed eruption of teeth, W... OMIM:235730
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Downslanted palpebral fiss... ORPHA:90652
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Elbow dislocation, Patellar dislocation, Hypoplasia of penis, Short nose ORPHA:93328
Aicardi Syndrome
Optic atrophy, Block vertebrae, Cleft upper lip, Optic disc coloboma, Intestinal polyposis, Promi... ORPHA:50
Fetal Hydantoin Syndrome
Depressed nasal ridge, Epicanthus, Ptosis, Abnormality of the fontanelles or cranial sutures, Sho... ORPHA:1912
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re... ORPHA:2785
Alkaptonuria
Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D... OMIM:203500
Fibrochondrogenesis 2
Platyspondyly, Anteverted nares, Short nose OMIM:614524
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Lymp... OMIM:619573
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati... ORPHA:537
Aymé-Gripp Syndrome
Depressed nasal bridge, Limitation of joint mobility, Bilateral ptosis, Downslanted palpebral fis... ORPHA:1272
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati... OMIM:174000
Distal Duplication 5Q
Downslanted palpebral fissures, Prominent nasal bridge, Aplasia/Hypoplasia of the gallbladder, Ep... ORPHA:96097
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Depressed nasal ridge, Bulbous nose, Long eyelashes, Thick eyebrow, Promin... OMIM:156200
Pallister-Hall-Like Syndrome
Micropenis, Depressed nasal bridge, Hip dislocation, Short nose OMIM:241800
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Short nose OMIM:300887
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Decreased glomerular filtration rate, Hyperoxaluria, Stage 5 chronic ... ORPHA:93598
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Sparse eyebrow, Congenital hip dislocation, Hypocholesterolemia, Telecant... OMIM:244450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Broad nasal tip, Vesicoureteral reflux, Upslanted palpebral fissure, Long palp... OMIM:614749
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Epicanthus, Short neck, Hepatomegal... OMIM:266920
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Immunodeficiency 22
Anemia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper... OMIM:615758
Degcags Syndrome
Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Genu v... OMIM:619488
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Osteoporosis, Flexion contracture, Scoliosis, Short nose, Wide nose OMIM:615851
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Highly arched eyebrow, Renal hypoplasia, Depressed nasal bridge, Lacrimal duct... OMIM:618454
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Increased size of nasopharyngeal adenoids, Persiste... OMIM:619769
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Radioulnar synostosis... ORPHA:536471
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Limitation of joint mobility, Humeroradial synostosis, Radioulnar ... ORPHA:95699
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Epicanthus, Hepatoblastoma, Short neck, Hepatomegaly, Hypospadias, ... ORPHA:373
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Horseshoe kidney, Pancytopenia, Anemia, Reticulocy... OMIM:227646
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Epistaxis, Acute kidney injury, Elevated circulating hepatic transaminase... ORPHA:340
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea... OMIM:615846
Non-Distal Duplication 13Q
Abnormal eyelash morphology, Thick eyebrow, Short nose, Synophrys ORPHA:1702
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Broad nasal tip, Ptosis, Premature posterior fontanelle closure, Metopic ... ORPHA:488437
Alkaptonuria
Aminoaciduria, Joint dislocation, Elevated urinary homogentisic acid, Abnormality of the nose, He... ORPHA:56
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Osteopenia, Pathologic fracture, Genu valgum, Increased susceptibili... OMIM:612199
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Oliguria, Stiff neck, Lymphopenia, Leuko... ORPHA:319213
Brucellosis
Hip osteoarthritis, Septic arthritis, Sacroiliac arthritis, Osteomyelitis, Hypersplenism, Abnorma... ORPHA:1304
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Anteverted nares, Hyperglycinemia, Ankle clonus, Thrombocytopenia, Hype... OMIM:620423
Distal Deletion 9P
Wide nasal bridge, Upslanted palpebral fissure, Epicanthus, Short neck, Hypospadias, Short nose ORPHA:1642
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Delayed pubic bone ossification, Abnormal mandible condylar process m... ORPHA:2976
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Hypoplasia of eyelid, Genu valgum, Leukocytosis, Hepatic steatosis, Convex nasa... OMIM:619321
Desmosterolosis
Hypoplastic nasal bridge, Joint contracture of the hand, Abnormal circulating cholesterol concent... OMIM:602398
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Delayed closure of the anterior fontanelle, Transient hypophosph... OMIM:127000
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Downslanted palpebral fissures, Lumbar hyperlordosis, Prominent nasal bridge, Abnorma... ORPHA:251028
Wiedemann-Steiner Syndrome
Wide nasal bridge, Short palpebral fissure, Hyperextensibility at elbow, Delayed skeletal maturat... ORPHA:319182
Noonan Syndrome 3
Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Delayed skeletal maturation, Downslan... OMIM:609942
Omodysplasia 1
Axillary pterygium, Wide nasal bridge, Depressed nasal bridge, Popliteal pterygium, Limited knee ... OMIM:258315
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Short palpebral fissure, Abnormality of the ureter, Telecanthus, Limba... ORPHA:3339
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration,... ORPHA:330015
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Myelopathy, Abnormal motor evoked... ORPHA:909
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Depressed nasal ridge, Short nose, Decreased skull ossification OMIM:300863
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hematuria, Thrombocytopenia, ... ORPHA:319251
3Mc Syndrome 1
Lambdoidal craniosynostosis, Highly arched eyebrow, Coronal craniosynostosis, Caudal appendage, D... OMIM:257920
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
22Q11.2 Deletion Syndrome
Epicanthus, Short neck, Patellar dislocation, Hypospadias, Polycystic kidney dysplasia, Choanal a... ORPHA:567
Baller-Gerold Syndrome
Abnormality of the ureter, Narrow nasal bridge, Prominent nasal bridge, Vesicoureteral reflux, La... ORPHA:1225
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Synostosis of carpal bones, Elbow dislocation, Epicanthus, Short ne... ORPHA:1507
Warburg Micro Syndrome 3
Ankle clonus, Kyphoscoliosis, Blepharophimosis, Micropenis, Flexion contracture, Short nose OMIM:614222
Oculodentodigital Dysplasia
Short palpebral fissure, Hip dislocation, Underdeveloped nasal alae, Narrow nose, Narrow nasal br... OMIM:164200
Larsen-Like Syndrome
Joint dislocation, Delayed skeletal maturation, Absent nasal bridge, Kyphoscoliosis, Joint hyperm... OMIM:608545
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Nijmegen Breakage Syndrome
Choanal atresia, Autoimmune hemolytic anemia, Upslanted palpebral fissure, Hydronephrosis, Epican... OMIM:251260
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Long eyelashes, Telecanthus, Vesicoureteral reflux, Up... OMIM:616894
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leuke... ORPHA:99867
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Large fontanelles, Epicanthus, Elevated circulating alanine amin... OMIM:614866
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid... ORPHA:77293
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Micrognathia, Cleft soft palate, Narrow mouth, Hip contract... OMIM:619503
Carey-Fineman-Ziter Syndrome
Downslanted palpebral fissures, Glandular hypospadias, Anteverted nares, Hydronephrosis, Epicanth... ORPHA:1358
Lissencephaly, X-Linked, 2
Micropenis, Prominent nasal bridge, Wide anterior fontanel, Wide nasal bridge OMIM:300215
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Spondylolysis, Abnormality of the liver, Hyperbilirubinemia, Hip contracture, Osteolysis involvin... ORPHA:464321
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Recurrent upper respiratory tract infections, Functional abnormality of the bladder, ... ORPHA:391487
Aicardi-Goutieres Syndrome 1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomegaly, Thrombocytop... OMIM:225750
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Ankle swe... ORPHA:3260
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Horseshoe kidney, Pterygium, Pancytopenia, Leukopenia, Phimosis, Spa... OMIM:305000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Underdeveloped nasal alae, Thin eyebrow, Telecanthus, Bulbous nose, Prom... ORPHA:364577
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Osteopenia, Telecanthus, Joint hypermobility, Epicanthus, Long nose, Scol... OMIM:618590
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Genu valgum, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Patellar... ORPHA:534
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis ORPHA:319218
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel OMIM:601356
Kleefstra Syndrome
Highly arched eyebrow, Limitation of joint mobility, Tracheomalacia, Anteverted nares, Vesicouret... ORPHA:261494
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Restless legs, Sensorineural hearing impairment, Flexion con... ORPHA:101085
Cockayne Syndrome B
Optic atrophy, Carious teeth, Dental malocclusion, Limitation of joint mobility, Abnormal auditor... OMIM:133540
Geleophysic Dysplasia 1
Platyspondyly, Wide nasal bridge, Joint contracture of the hand, Osteopenia, Delayed skeletal mat... OMIM:231050
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Retrognathia, Hearing impairment, Widely spaced teeth, Abnormal heart morp... ORPHA:268261
Maternal Uniparental Disomy Of Chromosome 6
Accelerated bone age after puberty, Thrombocytopenia ORPHA:96181
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Cockayne Syndrome A
Optic atrophy, Carious teeth, Dental malocclusion, Limitation of joint mobility, Abnormal auditor... OMIM:216400
Sarcoidosis
Abnormal lymph node morphology, Abnormal nasal mucosa morphology, Hepatomegaly, Tubulointerstitia... ORPHA:797
Syndromic Diarrhea
Wide nasal bridge, Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Spl... ORPHA:84064
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint ... ORPHA:2557
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Ankyloblepharon, Underdeveloped nasal alae, Telecanthus, Midline ... OMIM:229400
Alg9-Cdg
Depressed nasal bridge, Periportal fibrosis, Wide anterior fontanel, Underdeveloped nasal alae, D... ORPHA:79328
Monosomy 9P
Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Abn... ORPHA:261112
Micro Syndrome
Wide nasal bridge, Anteverted nares, Joint stiffness, Hydronephrosis, Hypoplasia of penis, Scolio... ORPHA:2510
Acromesomelic Dysplasia 1
Thoracolumbar kyphosis, Lumbar hyperlordosis, Limited elbow extension, Thoracolumbar interpedicul... OMIM:602875
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Short palpebral fissure, Delayed skeletal maturation, Downslanted palpebr... OMIM:614114
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Elevated circ... ORPHA:84081
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Recurrent upper respiratory tract infections, Elevated circulating he... OMIM:256040
Roberts Syndrome
Long penis, Synostosis of carpal bones, Underdeveloped nasal alae, Patellar aplasia, Knee flexion... ORPHA:3103
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Prominent nasal bridge, Upslanted palpebral fi... ORPHA:251071
Donnai-Barrow Syndrome
Depressed nasal bridge, Wide anterior fontanel, Broad nasal tip, Downslanted palpebral fissures, ... OMIM:222448
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Antecubital pterygium, Wide anterior fo... OMIM:619339
Al-Raqad Syndrome
Short nose, Joint hypermobility OMIM:616459
Tyrosinemia, Type I
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Nep... OMIM:276700
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Downslanted palpebral fissures, Anteverted nares, Epiphyseal stippling, Po... OMIM:619135
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Hemosiderinuria, C... OMIM:105600
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Narrow palpebral fissure, Short nose OMIM:618087
Mandibuloacral Dysplasia With Type B Lipodystrophy
Large fontanelles, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Convex nasal ridge,... ORPHA:90154
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis, Anisopoik... OMIM:616457
Fanconi Anemia
Hypospadias, Short palpebral fissure, Choanal atresia, Hydroureter, Abnormality of the liver, Leu... ORPHA:84
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Depressed nasal bridge, Hypoplastic sacrum... OMIM:200600
Stuve-Wiedemann Syndrome 1
Wide nasal base, Short palpebral fissure, Talipes valgus, Enlarged joints, Elbow flexion contract... OMIM:601559
Peho Syndrome
Epicanthus, Short nose OMIM:260565
Larsen Syndrome
Depressed nasal bridge, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow d... OMIM:150250
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Rhizomelic Syndrome
Hip dislocation, Wide anterior fontanel OMIM:268250
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Broad columella, Thick eyebrow, Short nose OMIM:617865
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Downslanted palpebral fissures, Telecanthus, Anteverted nares, Upslanted palpebr... OMIM:610536
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Septic arthritis, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia... ORPHA:544482
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Wide anterior fontanel OMIM:275100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Conductive hearing impairment, High-frequency sensorineural hearing impairment, Umbil... OMIM:614557
Adams-Oliver Syndrome
Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia ORPHA:974
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Camptodactyly, Micropenis,... OMIM:617822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Delayed ossification of carpal bones, ... OMIM:239300
Craniometadiaphyseal Dysplasia
Osteopenia, Downslanted palpebral fissures, Sclerosis of skull base, Genu valgum, Wormian bones, ... OMIM:269300
Cadds
Elevated circulating hepatic transaminase concentration, Cholestasis, Increased circulating very ... ORPHA:369942
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Short palpebral fissure, Renal insufficiency, Splenome... OMIM:188400
Adenylosuccinase Deficiency
Elevated urinary succinylaminoimidazole carboxamide riboside level, Anteverted nares, Short nose,... OMIM:103050
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Delayed skeletal maturation, ... OMIM:613457
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Limb joint... OMIM:301072
Peho Syndrome
Limitation of joint mobility, Anteverted nares, Epicanthus, Palpebral edema, Flexion contracture,... ORPHA:2836
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Delayed skeletal maturation, Anteverted nares, Epiphyseal stippling, Upslanted pal... OMIM:214100
Acrofacial Dysostosis, Catania Type
Delayed skeletal maturation, Downslanted palpebral fissures, Spina bifida occulta, Hypospadias, S... ORPHA:1786
Toluene Embryopathy
Hydronephrosis, Epicanthus, Short palpebral fissure, Short nose ORPHA:1920
Fibrochondrogenesis
Depressed nasal bridge, Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Ca... ORPHA:2021
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Schinzel-Giedion Syndrome
Abnormality of the ureter, Radioulnar synostosis, Short neck, Hepatoblastoma, Hypospadias, Short ... ORPHA:798
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Short columella, Epicanthus, Ptosis, Narrow pa... OMIM:613603
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose OMIM:619356
3Q29 Microdeletion Syndrome
Downslanted palpebral fissures, Horseshoe kidney, Prominent nasal bridge, Joint hypermobility, Si... ORPHA:65286
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Downslanted palpebral fissures, Prominent nasal bridge, Epica... OMIM:300749
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal... ORPHA:275761
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Flexion contracture, Osteo... ORPHA:3042
Aicardi Syndrome
Optic atrophy, Block vertebrae, Cleft upper lip, Optic disc coloboma, Prominence of the premaxill... OMIM:304050
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Downslanted palpebral fissures, Wormian bones, Increased bone mineral density, Verteb... ORPHA:85184
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Joint stiffness, Renal insufficiency... ORPHA:3027
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, H... OMIM:207410
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Depressed nasal ridge, Short nose ORPHA:163966
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Abnormality of the nose, Underdeveloped nasal alae, Broad ... ORPHA:2710
Osteogenesis Imperfecta
Enlarged vertebral pedicles, Genu valgum, Large fontanelles, Decreased skull ossification, Disloc... ORPHA:666
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Nephronophthisis 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:256100
Heart And Brain Malformation Syndrome
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Wide anteri... OMIM:616920
Holoprosencephaly 7
Hypoplasia of the premaxilla, Unilateral cleft lip, Macrotia, Median cleft palate, Bilateral clef... OMIM:610828
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic teta... ORPHA:93325
Monosomy 9Q22.3
Abnormality of the vertebral column, Downslanted palpebral fissures, Joint hypermobility, Epicant... ORPHA:77301
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Abnormal circulat... ORPHA:2298
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Hypoplasia of penis, S... ORPHA:280200
Gorlin Syndrome
Abnormal vertebral morphology, Wide nasal bridge, Vertebral wedging, Telecanthus, Abnormality of ... ORPHA:377
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Anteverted nares, Upslanted palpebral fissure, ... OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Hooded upper eyelid, Broad nasal tip, Telecanthus, Renal cortical cysts, Vesicoureteral reflux, A... OMIM:618548
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Abnormal eyelid morphology, A... ORPHA:1812
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Unilatera... ORPHA:2729
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Broad nasal tip, Long palpebral fissure, Scoliosis, Short nose OMIM:614207
Thanatophoric Dysplasia Type 1
Platyspondyly, Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Kyp... ORPHA:1860
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Lymphopenia, Leukopenia, Chronic hepatitis, Decreased propo... ORPHA:289390
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Depressed nasal bridge, Lumbar hyperlordosis, Neonatal death, Urinary incontinence... OMIM:616482
Alport Syndrome 1, X-Linked
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Thrombocytopenia, Ne... OMIM:301050
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Renal... ORPHA:79282
Meier-Gorlin Syndrome 7
Choanal atresia, Thin eyebrow, Vesicoureteral reflux, Vertebral segmentation defect, Urethral str... OMIM:617063
Faciodigitogenital Syndrome, Autosomal Recessive
Downslanted palpebral fissures, Anteverted nares, Prominent nasal bridge, Long palpebral fissure,... OMIM:227330
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Retrognathia, Micrognathia, Joint hypermobility, Prominence of the premaxilla, Neon... OMIM:614437
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Osteopetrosis, A... OMIM:259730
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Short palpebral fissure, Recurrent upper respiratory tract infections, Dep... OMIM:618332
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Short palpebral fissure, Epicanthus inversus, Broad nasal tip, Delayed sk... OMIM:309590
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Tick-Borne Encephalitis
Elevated circulating hepatic transaminase concentration, Stiff neck, Leukopenia, Limb pain, Leuko... ORPHA:297
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Short nose ORPHA:163961
Progeroid Syndrome, Petty Type
Thick eyebrow, Long eyelashes in irregular rows, Decreased skull ossification, Epicanthus, Wide a... ORPHA:2963
Aspartylglucosaminuria
Abnormal vertebral morphology, Wide nasal bridge, Delayed skeletal maturation, Joint stiffness, A... ORPHA:93
Trisomy 8P
Depressed nasal bridge, Nephrocalcinosis, Recurrent upper respiratory tract infections, Annular p... ORPHA:264450
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Underdeveloped nasal alae, Downslanted palpebral fissures, Anteverted nar... OMIM:300912
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Nephropathy, Recurrent upper respiratory tract infections, Epista... OMIM:301000
Pallister-Hall Syndrome
Choanal atresia, Renal hypoplasia, Depressed nasal bridge, Hydroureter, Distal urethral duplicati... OMIM:146510
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Wide anterior fontanel OMIM:618240
Nicolaides-Baraitser Syndrome
Wide nasal base, Delayed skeletal maturation, Downslanted palpebral fissures, Unilateral narrow p... OMIM:601358
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Horizontal eyebrow, Lumbar hyperlordosis, Almond-shaped palpebral fissure, Joint hypermobility, E... ORPHA:522077
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Sparse eyebrow, Congenital hip dislocation, Annular pancreas, Sparse eyel... OMIM:268400
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Recurrent fractures, Decreased skull ossification, Decreased calvarial... OMIM:610915
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Atresia of the exter... ORPHA:2673
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Spontaneous, recurrent epistaxis, Macro... ORPHA:274
Frank-Ter Haar Syndrome
Depressed nasal bridge, Osteopenia, Broad nasal tip, Downslanted palpebral fissures, Delayed cran... OMIM:249420
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Sparse eyelashes, Epicanthus, Keratoconjunctivitis sicca, Short nose OMIM:234050
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Elevated circulating hepatic transaminase concentration, Epiphyseal stippling, Joint h... OMIM:277450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Popliteal pterygium, Shallow acetabular fossae, Patellar hypoplasia, Delayed s... OMIM:609945
Opitz-Kaveggia Syndrome
Choanal atresia, Joint contracture of the hand, Downslanted palpebral fissures, Lumbar hyperlordo... OMIM:305450
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ... OMIM:252150
Coffin-Lowry Syndrome
Highly arched eyebrow, Thick nasal septum, Broad columella, Delayed skeletal maturation, Downslan... OMIM:303600
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Wide nasal bridge, Short palpebral fissure, Broad nasal tip, Downslanted palpe... OMIM:615873
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252160
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge, Thrombocytopenia ORPHA:572798
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Downslanted palpebral fissures, Telecanthus, Blepharochalasis, Recurrent mandibular s... OMIM:225410
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Open mouth, Sensorineural heari... ORPHA:2152
Cerebrooculonasal Syndrome
Sparse eyebrow, Proboscis, Anteverted nares, Prominent nasal bridge, Sparse eyelashes, Epicanthus... OMIM:605627
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Long eyelashes, Anteverted nares, Epicant... ORPHA:357001
Marshall Syndrome
Platyspondyly, Depressed nasal bridge, Anteverted nares, Knee osteoarthritis, Epicanthus, Short nose OMIM:154780
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... ORPHA:51
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Upslanted palpebral fissure, Convex nasal ridge, Camptodactyly, Scoliosi... OMIM:300963
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Short neck, Short nose ORPHA:50810
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Delayed cranial suture... OMIM:601088
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Downslanted palpebral f... OMIM:616835
Acrocallosal Syndrome
Hypospadias, Wide anterior fontanel ORPHA:36
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Depressed nasal bridge, Synostosis of joints, Telecanthus, Anteverted nares, Accel... ORPHA:50945
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Downslanted palpebral fissures, Long eyelashes, Shallow orbits, Camptodac... OMIM:601353
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Anteverted nares, Vesicoureteral reflux, Renal insufficiency, Hypoplasia o... ORPHA:96147
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Large posterior fontanelle, Delayed skeletal maturation, Delayed crania... ORPHA:85199
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Arthritis... ORPHA:536
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Bicoronal synostosis, Short nose ORPHA:93258
Crimean-Congo Hemorrhagic Fever
Epistaxis, Hepatic failure, Conjunctivitis, Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, C... ORPHA:99827
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Large fontanelles, Hepatic steatosis, Genu valgum, Hematuria, Jaundice, Hypos... OMIM:619475
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Keratoconjunctivitis sicca, Lymphadenopathy, Thrombocytop... ORPHA:79078
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Tracheomalacia, Horseshoe ... ORPHA:93260
Duane Retraction Syndrome
Blepharospasm, Wide nasal bridge, Short palpebral fissure, Abnormal form of the vertebral bodies,... ORPHA:233
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Ctcf-Related Neurodevelopmental Disorder
Highly arched eyebrow, Osteopenia, Broad nasal tip, Long eyelashes, Thick eyebrow, Anteverted nar... ORPHA:363611
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture OMIM:616881
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Large fontanelles,... OMIM:218600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Open mouth, Sensorineural heari... ORPHA:261537
Witteveen-Kolk Syndrome
Hearing impairment, Hyperplasia of the maxilla, Narrow mouth, Open mouth, Glue ear, Sensorineural... OMIM:613406
Opitz Gbbb Syndrome
Wide nasal bridge, Rectourethral fistula, Telecanthus, Anteverted nares, Vesicoureteral reflux, M... OMIM:300000
Craniolenticulosutural Dysplasia
Wide nasal bridge, Osteopenia, Posterior wedging of vertebral bodies, Anteverted nares, Prominent... OMIM:607812
Robinow Syndrome, Autosomal Dominant 1
Wide nasal bridge, Depressed nasal bridge, Delayed skeletal maturation, Downslanted palpebral fis... OMIM:180700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Platyspondyly, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process,... OMIM:271665
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Vertebral wedging, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Irregular ossi... OMIM:109400
Arterial Tortuosity Syndrome
Short palpebral fissure, Avascular necrosis of the capital femoral epiphysis, Joint hypermobility... ORPHA:3342
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Prominent nose, Anteverted nares, Underdeveloped nasolabial fold, Upslanted palp... ORPHA:177907
Roberts-Sc Phocomelia Syndrome
Low-set ears, Ankle flexion contracture, Hyperplasia of the maxilla, Cleft upper lip, Elbow flexi... OMIM:268300
Mpdu1-Cdg
Renal cortical cysts, Wide anterior fontanel, Elevated circulating creatine kinase concentration ORPHA:79323
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Arthrogryposis multiplex congenita, Downslanted palpebral fissures, Delayed cr... OMIM:601776
Exercise-Induced Malignant Hyperthermia
Hepatic failure, Acute kidney injury, Hyperphosphatemia, Oliguria, Decreased liver function, Hypo... ORPHA:466650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Hydroureter, Anteverted nares, Upslanted palpebral fissure, Hydroneph... ORPHA:280633
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Osteomalacia, Medullary nephrocalcinosis, Hypophosph... ORPHA:51608
Geleophysic Dysplasia 2
Limitation of joint mobility, Delayed skeletal maturation, Joint stiffness, Short nose, Hepatomeg... OMIM:614185
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic vertebral bodies, Short neck, Coronal cleft vertebrae, Wide anterior f... ORPHA:2347
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Downslanted palpebral fissures, Anteverted nares... ORPHA:261236
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Prominent nose, Wide anterior fontanel OMIM:201170
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Ile... OMIM:609136
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Low-set ears, Sclerosis of skul... ORPHA:3003
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Highly arched eyebrow, Wide nasal bridge, Hip dislocation, Abnorma... OMIM:194190
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short palpebral fissure, Upslanted palpebral fissure, Shallow orbits, Sho... OMIM:301030
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Joint stiffness, Upslanted palpebral fissure, Kyphoscoliosis, Aplasia of... OMIM:618820
Ring Chromosome 7 Syndrome
Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Narro... ORPHA:1449
Robinow Syndrome
Webbed penis, Flared nostrils, Multicystic kidney dysplasia, Broad nasal tip, Depressed nasal bri... ORPHA:97360
Beckwith-Wiedemann Syndrome
Nephropathy, Otosclerosis, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuff... ORPHA:116
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Short palpebral fissure, Broad nasal... OMIM:617157
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Open mouth, Ventricular septal ... ORPHA:261552
Leptospirosis
Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Conjunctival hype... ORPHA:509
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Vesicoureteral reflux, Hydronephrosis, Epicanthus, Uret... OMIM:614080
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Hydronephrosis, Short neck, Urethral atresia, Hemiverte... OMIM:271520
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia, Short nose OMIM:266810
Trisomy 18
Choanal atresia, Delayed skeletal maturation, Camptodactyly of finger, Hydronephrosis, Epicanthus... ORPHA:3380
Holt-Oram Syndrome
Micrognathia, Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Radioulnar syn... OMIM:142900
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Broad nasal tip, Telecanthus, Hypocalcemia, Upslanted palpebral fissure, Joint... OMIM:620330
Fontaine Progeroid Syndrome
Platyspondyly, Depressed nasal bridge, Short palpebral fissure, Coronal craniosynostosis, Aplasti... OMIM:612289
Warburg Micro Syndrome 2
Micropenis, Flexion contracture, Prominent nasal bridge, Short nose OMIM:614225
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Delayed skeletal maturation, Downslanted palpebral fissure... OMIM:620568
Femoral-Facial Syndrome
Absent vertebra, Hypoplastic acetabulae, Underdeveloped nasal alae, Dysplastic sacrum, Camptodact... OMIM:134780
Distal Deletion 12Q
Annular pancreas, Downslanted palpebral fissures, Elbow flexion contracture, Bulbous nose, Teleca... ORPHA:96149
Toriello-Carey Syndrome
Short palpebral fissure, Sparse eyebrow, Telecanthus, Short neck, Wide anterior fontanel, Short nose ORPHA:3338
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Simpson-Golabi-Behmel Syndrome, Type 1
Epicanthus, Hepatoblastoma, Hepatomegaly, Hypospadias, Short nose, Downslanted palpebral fissures... OMIM:312870
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Grade III vesicoureteral reflux, Urethral stricture, Epicanthus, Chordee, Narrow palpebral fissur... OMIM:619522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Choanal atresia, Downslanted palpebral fissures, Narrow nose, Anteverted n... OMIM:301044
Williams Syndrome
Synostosis of joints, Genu valgum, Epicanthus, Radioulnar synostosis, Blepharophimosis, Patellar ... ORPHA:904
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Osteopenia, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recurren... OMIM:150230
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:616430
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Ve... ORPHA:959
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Tracheomalacia, Short nose ORPHA:93259
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Limited elbow extension, Delayed ossification of carpal bones, Joint h... OMIM:300106
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Long philtrum, Optic dis... ORPHA:141099
Autosomal Recessive Faciodigitogenital Syndrome
Telecanthus, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Joint hypermo... ORPHA:1974
Osteogenesis Imperfecta, Type Vii
Osteopenia, Delayed cranial suture closure, Recurrent fractures, Decreased calvarial ossification... OMIM:610682
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Radioulnar synostosis, Short neck, Hypospadias, ... ORPHA:199
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Bannayan-Riley-Ruvalcaba Syndrome
Delayed skeletal maturation, Anteverted nares, Joint hypermobility, Scoliosis, Short nose, Wide nose ORPHA:109
Developmental And Epileptic Encephalopathy 111
Long eyelashes, Thick eyebrow, Wide anterior fontanel, Nephrolithiasis OMIM:620504
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Depressed nasal bridge, Large posterior fontanelle, Absent gallbladder, Absent nasal bridge, Decr... OMIM:617925
C Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Joint dislocation, Limitation of joint mobi... ORPHA:1308
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Kyphosis, Short nose, Hyperextensibility of the finger joints ORPHA:521426
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Renal cortical cysts, Wide anterior fontanel OMIM:609180
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Keratoconjunctivitis sicca, Short nose OMIM:601675
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Williams-Beuren Syndrome
Epicanthus, Radioulnar synostosis, Blepharophimosis, Short nose, Osteopenia, Broad nasal tip, Ren... OMIM:194050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Kyphosis, Short nose OMIM:617527
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatoce... ORPHA:90062
Acrocallosal Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Epicanthus, Micropenis, Hypospadias, Wide ante... OMIM:200990
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Downslanted palpebral fissures, Kyphoscoliosis, Synovitis, Epic... OMIM:163950
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ureterocele, Decreased liver function, Short nose OMIM:614863
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Neonatal death, ... OMIM:194080
Rhombencephalosynapsis
Anteverted nares, Short nose ORPHA:59315
Wrinkly Skin Syndrome
Wide nasal bridge, Congenital hip dislocation, Osteopenia, Downslanted palpebral fissures, Delaye... OMIM:278250
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Abdominal situs inversus, Pol... OMIM:306955
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Humeroradial synostosis, Short neck, Hypoplasia of penis, Short... ORPHA:2879
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Prominen... ORPHA:1519
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Depressed nasal bridge, Spondylolysis, Congenital hip dislocation, Stillbirth, Dow... OMIM:304120
Costello Syndrome
Depressed nasal bridge, Tracheomalacia, Downslanted palpebral fissures, Anteverted nares, Renal i... OMIM:218040
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Micropenis, Vertebral fusion, Hypospadias, Vertebral hypoplasia OMIM:206900
1P21.3 Microdeletion Syndrome
Broad nasal tip, Upslanted palpebral fissure, Short nose, Joint hypermobility ORPHA:293948
Peters Plus Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Short palpebral fissure, Anteverted nares, ... ORPHA:709
Pallister-Hall Syndrome
Unilateral renal agenesis, Choanal atresia, Depressed nasal ridge, Downslanted palpebral fissures... ORPHA:672
Turnpenny-Fry Syndrome
Delayed skeletal maturation, Downslanted palpebral fissures, Lumbar hyperlordosis, Joint hypermob... OMIM:618371
Pallister-Killian Syndrome
Delayed cranial suture closure, Sparse eyelashes, Epicanthus, Short neck, Hypospadias, Hip disloc... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Large fontanelles, Narrow nasal ridge, Recurrent pancreatitis, Hypercholesterolemia, Polyuria, Hy... OMIM:606721
Penile Agenesis
Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Hyd... ORPHA:49

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hyal2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hyal2.

No publications found that use IMPC mice or data for Hyal2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hyal2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hyal2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hyal2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hyal2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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