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Gene: Ednrb MGI:102720

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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:
endothelin receptor type B
Synonyms:
Sox10m1,  ETR-b,  ETb

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 Ednrb mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... OMIM:172800
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Book Syndrome
Premature graying of hair OMIM:112300
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Telecanthus
Anodontia, Bilateral cleft lip and palate OMIM:187350
Uvula, Bifid
Bifid uvula OMIM:192100
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Vitiligo OMIM:221350
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Syngnathia
Cleft palate OMIM:119550
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spastic Paraplegia 23, Autosomal Recessive
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... OMIM:270750
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Intellectual Developmental Disorder, X-Linked 90
Malar flattening, High palate, Bifid uvula OMIM:300850
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... ORPHA:505395
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A... OMIM:201550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... ORPHA:388
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E... OMIM:619110
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Chromosome 22Q11.2 Duplication Syndrome
Velopharyngeal insufficiency, High palate, Micrognathia OMIM:608363
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Bifid uvula, Long philtrum OMIM:615942
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa... ORPHA:1484
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Furrowed tongue, Nail dystrophy... ORPHA:140936
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Cronkhite-Canada Syndrome
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Abnormality of skin pigmentation, Stomac... ORPHA:2930
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... ORPHA:3440
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... OMIM:619941
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Prem... OMIM:148820
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Vitiligo OMIM:619846
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Immunodeficiency 7
Diarrhea, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media, Failure to thrive, V... OMIM:615387
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... ORPHA:894
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the dentition, Celiac d... ORPHA:576283
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Synovitis, Hyperextensibility at wrists, Finger joint hypermobility,... OMIM:601492
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... OMIM:209880
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Arthrogryposis mult... OMIM:616531
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Skin rash, Recurrent aphthous stomatitis, Recurrent gastroenteritis, Ot... ORPHA:275
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... OMIM:618222
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Hyperpigmentation ... ORPHA:46487
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Stickler Syndrome, Type Ii
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flattening, Bifid u... OMIM:604841
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... OMIM:300580
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Absence Of The Pulmonary Artery
Orthopnea, Abnormal EKG, Cyanosis, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Non... ORPHA:980
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Cleft palate,... OMIM:244600
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of retinal... ORPHA:873
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Short stature, Small for gestational age, Ma... OMIM:601675
Zimmermann-Laband Syndrome 3
Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula OMIM:618658
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Orofacial cleft ORPHA:3434
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Orofacial Cleft 14
Median cleft lip OMIM:615892
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ... ORPHA:423
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Cleft palate, Cleft upper lip OMIM:214300
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... ORPHA:2302
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... OMIM:613662
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Kleefstra Syndrome 2
Everted lower lip vermilion, Bifid uvula OMIM:617768
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous ... OMIM:175500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Limitation of joint mobility, ... ORPHA:3080
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hirschsprung Disease-Type D Brachydactyly Syndrome
Hypoplastic fingernail, Aganglionic megacolon, Aplastic/hypoplastic toenail ORPHA:2150
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Acatalasemia
Vitiligo ORPHA:926
Genitopalatocardiac Syndrome
Micrognathia, Cleft palate, Cleft upper lip OMIM:231060
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Myopathy, Centronuclear, 5
Hip contracture, Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula OMIM:615959
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Small nail, Aganglionic megacolon, Anal atresia OMIM:235760
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft OMIM:141400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte... OMIM:225060
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... ORPHA:70588
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, C... OMIM:240300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia OMIM:249710
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Cleft upper lip ORPHA:85287
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia, Hyperpigmentation... OMIM:606764
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... OMIM:612292
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Orofaciodigital Syndrome Viii
Median cleft lip, High palate, Cleft palate OMIM:300484
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Infantile Myofibromatosis
Intestinal obstruction, Abnormal hair morphology, Tracheoesophageal fistula, Abnormal intestine m... ORPHA:2591
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate OMIM:217150
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Mismatch Repair Cancer Syndrome 2
Multiple cafe-au-lait spots, Colon cancer OMIM:619096
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... ORPHA:86812
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor OMIM:602418
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Crackles, Tachypnea, Lactic acidosis, ST segment depression, Hypotension, ... ORPHA:466650
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Cleft palate ORPHA:2476
Dermotrichic Syndrome
Proportionate short stature, Aganglionic megacolon, Nail dystrophy, Hyperconvex toenail ORPHA:99688
Burkitt Lymphoma
Nausea and vomiting, Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain ORPHA:543
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Short stature, Aganglionic megacolon, Sparse eyebrow, Cleft palate, Iris coloboma ORPHA:66629
Charlie M Syndrome
Micrognathia, Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narro... ORPHA:1406
Limb-Mammary Syndrome
Cleft palate, Hypodontia, Camptodactyly, Joint contracture of the hand, Bifid uvula OMIM:603543
Pai Syndrome
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology ORPHA:1993
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Growth delay, Intrauterine... ORPHA:85284
Burn-Mckeown Syndrome
Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Thin vermilion border, Short ... OMIM:608572
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Diamond-Blackfan Anemia 6
Micrognathia, Cleft upper lip, Cleft palate, Tracheomalacia, Retrognathia, Bifid uvula OMIM:612561
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Myositis, Sinusitis... ORPHA:183
Zechi-Ceide Syndrome
Malar flattening, Oligodontia, Cleft palate, Cleft upper lip OMIM:612916
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Aland Island Eye Disease
Albinism OMIM:300600
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... ORPHA:178320
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Short stature, Feeding difficulties in infancy, Obesity, Hypopigmentati... ORPHA:177910
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Myopathy And Diabetes Mellitus
Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Fixed... ORPHA:166016
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft palate, Cleft upper lip OMIM:300958
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Flexion contracture,... OMIM:603511
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Low anterior hairline, Anal atresia, Vitiligo ORPHA:480898
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, M... ORPHA:2872
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, Alkalosis, Intracrani... ORPHA:90062
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Abnormal autonomic nervous syst... ORPHA:97229
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Phenobarbital Embryopathy
Mandibular prognathia, Malar flattening, Unilateral cleft lip ORPHA:1919
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, High, narrow palate, Cle... ORPHA:3242
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Ile... ORPHA:163746
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Hypopigmented skin patches, Uveitis, Arthritis, Patch... ORPHA:90289
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... ORPHA:231183
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip OMIM:609654
Hartsfield Syndrome
Craniosynostosis, Non-midline cleft lip, Cleft palate ORPHA:2117
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... ORPHA:90646
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusio... OMIM:612387
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Stiff-Person Syndrome
Vitiligo OMIM:184850
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Tel... ORPHA:2038
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip,... OMIM:618622
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Cleft upper lip ORPHA:398189
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,... ORPHA:199299
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation ORPHA:52503
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Trisomy 8Q
Camptodactyly of finger, Joint stiffness, Micrognathia, Non-midline cleft lip, Bone cyst, Cleft p... ORPHA:1752
Aarskog-Scott Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:915
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... OMIM:250250
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Cleft palate, Cleft upper lip OMIM:244200
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Micrognathia, Deep philtrum, Orofacial cleft, Incomplete cleft of the upp... ORPHA:77300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening ORPHA:166100
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ... OMIM:618089
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Fanconi Anemia, Complementation Group P
Cafe-au-lait spot, Vitiligo OMIM:613951
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens... ORPHA:79126
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip OMIM:601357
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Tooth agenesis, Cleft palate, Cleft upper lip OMIM:147950
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Pyloric stenosis, Cleft palate, High palate, Short philtrum, Narrow mouth, Bifid uv... ORPHA:96184
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Cachexia ORPHA:1438
Blepharonasofacial Malformation Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis, Joint hyperflexibility, Long philtrum ORPHA:1252
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Distal Deletion 10P
Joint stiffness, Micrognathia, Non-midline cleft lip, Cleft palate, Ectopic anus, Anal atresia ORPHA:1580
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Clef... OMIM:114300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Anal mucosal leukoplakia, Abnormality of skin pi... ORPHA:218
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Pulmonary embolism, Diarrhea, Vomiting, Ab... OMIM:226300
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Hypoxemia, Restrictive ventilatory defe... ORPHA:2902
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Temple Syndrome
Micrognathia, Flexion contracture, Cleft palate, High palate, Short philtrum, Bifid uvula, Joint ... OMIM:616222
Acute Adrenal Insufficiency
Nausea and vomiting, Orthostatic hypotension, Sparse axillary hair, Anorexia, Abdominal pain, Dia... ORPHA:95409
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon, Low anterior hairline, Obesity ORPHA:261222
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Congenital Myopathy 13
Hypoxemia, Restrictive ventilatory defect, Hypercapnia OMIM:255995
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Abnormality of skin pigmentation, Premature gray... ORPHA:1979
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... ORPHA:71526
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft palate, Cleft upper lip OMIM:601076
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Joint hypermobility, Cleft palate, Cleft upper lip OMIM:607597
Obesity And Hypopigmentation
Red hair OMIM:620195
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Hydrolethalus
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... ORPHA:2189
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion... OMIM:612350
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Micrognathia, Cleft palate, Cleft upper lip OMIM:239800
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... ORPHA:343
Erythrokeratodermia Variabilis
Alopecia, Short stature, Hypermelanotic macule, Skin rash, Abnormal hair morphology, Weight loss,... ORPHA:317
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Cleft palate ORPHA:1794
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... OMIM:258865
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the gastrointestinal tract, Small intes... ORPHA:298
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Flexion contracture, Cleft palate, High palate OMIM:618388
Juberg-Hayward Syndrome
Anteriorly placed anus, Limited elbow extension, Cleft upper lip OMIM:216100
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, Retrognathia, Media... ORPHA:1832
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... ORPHA:2221
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Eczema, Glomerulonephritis, Ileus, Chronic diarrhea, Hepatitis, Arthri... OMIM:304790
Nager Syndrome
Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wi... ORPHA:245
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate, Joint h... OMIM:619122
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation, Short-segment aganglionic megacolon OMIM:619465
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... ORPHA:3201
Melas
Intestinal pseudo-obstruction, Short stature, Gastrointestinal dysmotility, Diarrhea, Optic atrop... ORPHA:550
Mesomelia-Synostoses Syndrome
Joint stiffness, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Micrognathia... ORPHA:2496
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Osteoporosis OMIM:615271
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti ORPHA:1573
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Cleft upper lip, Micrognathia, Flexion contracture, Cleft palate, Increased sus... OMIM:312150
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Addison Disease
Nausea and vomiting, Orthostatic hypotension, Sparse axillary hair, Anorexia, Celiac disease, Abd... ORPHA:85138
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Tarsal synostosis, Cleft palate, Micrognathia ORPHA:3429
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Median cleft lip, Cleft palate ORPHA:2165
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Thyroid... ORPHA:293978
White-Sutton Syndrome
Abnormality of the gastrointestinal tract, Short stature, Feeding difficulties in infancy, Optic ... ORPHA:468678
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... ORPHA:2780
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Hypermelanotic macule, Pericarditis, Abdominal pain,... ORPHA:32960
Tonne-Kalscheuer Syndrome
Micrognathia, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Nar... OMIM:300978
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia OMIM:613680
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palate, Camptodactyly OMIM:246560
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Malar flattening ORPHA:246
Distal Monosomy 7Q36
Wide mouth, Non-midline cleft lip, Cleft palate, Micrognathia ORPHA:1636
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucoc... ORPHA:227990
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Igg4-Related Aortitis
Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss ORPHA:449400
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Meckel Syndrome, Type 5
Cleft palate, Cleft upper lip OMIM:611561
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Dystonia-Deafness Syndrome 1
Cleft palate, Cleft upper lip OMIM:607371
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Thick eyebrow ORPHA:85278
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Alg3-Cdg
Osteopenia, Macroglossia, High palate, Arthrogryposis multiplex congenita, Abnormal uvula morphology ORPHA:79321
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi... ORPHA:99742
Autosomal Recessive Amelia
Non-midline cleft lip, Orofacial cleft, Micrognathia ORPHA:1027
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Schilbach-Rott Syndrome
Submucous cleft hard palate, Micrognathia, Bifid uvula, Narrow mouth OMIM:164220
Anophthalmia Plus Syndrome
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Fetal Alcohol Syndrome
Thin upper lip vermilion, Joint stiffness, Micrognathia, Non-midline cleft lip, Cleft palate, Mic... ORPHA:1915
Distal Deletion 17Q
Aplasia/Hypoplasia of the uvula, Abnormality of the philtrum, Narrow mouth ORPHA:1597
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,... ORPHA:199241
Meckel Syndrome, Type 8
Cleft palate, Cleft upper lip OMIM:613885
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Short stature, Generalized hirsutism, Cachexia ORPHA:1933
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss ORPHA:52416
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Growth delay... ORPHA:75233
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Alopecia, Psoriasi... ORPHA:37042
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... ORPHA:596
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hyperconvex nail OMIM:613870
Zimmermann-Laband Syndrome
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... ORPHA:3473
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Mcdonough Syndrome
Synophrys, Short stature, Cachexia ORPHA:2471
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... OMIM:182290
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palate, Downturne... OMIM:620107
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucoc... ORPHA:227982
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hyperkalemic metabolic acidosis, Hypotension, Hypocapnia ORPHA:90794
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Aganglionic megacolon, Fine hair, Malabsorption ORPHA:935
Ramos-Arroyo Syndrome
Sparse scalp hair, Severe short stature, Aganglionic megacolon, Feeding difficulties in infancy, ... ORPHA:1051
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Optic atrophy ORPHA:26792
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Schisis Association
Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft lip, Retrognathia OMIM:617926
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Intellectual Developmental Disorder, Autosomal Recessive 13
Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip OMIM:613192
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate, Micrognathia OMIM:241800
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro... OMIM:616331
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Cachexia, Anorexia, Melanocytic nevus, Multip... ORPHA:1969
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... ORPHA:363444
Spondyloenchondrodysplasia
Short stature, Pneumonia, Skin rash, Disproportionate short-trunk short stature, Hepatitis, Arthr... ORPHA:1855
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outfl... ORPHA:860
Stickler Syndrome, Type I
Joint stiffness, Micrognathia, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence... OMIM:108300
Autosomal Recessive Centronuclear Myopathy
Hip contracture, High palate, Narrow mouth, Retrognathia, Bifid uvula ORPHA:169186
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Hypermelanotic macule, Pneumonia, Hypopigmented skin patches on arms, Rheumatoid a... OMIM:607944
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Fine hair, Growth delay, Sparse or absent eyelashes, Feeding diff... ORPHA:217346
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, High palate, Arthrogryposis multiplex congenita, Joint cont... OMIM:601110
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Generalized hyperpigmentation, Pericarditis, Anorexia, Cac... ORPHA:3452
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Rapp-Hodgkin Syndrome
Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth... OMIM:129400
Familial Melanoma
Abnormal hair morphology, Freckling, Neoplasm of the stomach ORPHA:618
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Bartsocas-Papas Syndrome
Median cleft lip, Micrognathia, Cleft palate, Narrow mouth, Synostosis of joints ORPHA:1234
Pulmonary Blastoma
Weight loss ORPHA:64741
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Malar flattening, Cleft palate, Cleft upper lip OMIM:268850
Mismatch Repair Cancer Syndrome 3
Multiple cafe-au-lait spots, Axillary freckling, Colon cancer, Neoplasm of the rectum OMIM:619097
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Placental Insufficiency
Hypoxemia ORPHA:439167
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival overgrowth, Camptodactyly... OMIM:618529
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Short stature, Retinal pigment epithelial mottling, Diarrhea, Recurrent... OMIM:251260
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Short stature, Osteomyelitis, Skin ra... ORPHA:47
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... OMIM:620045
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Feeding difficulties in infancy, Obesity, Hypopigmentation of the skin,... ORPHA:411515
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Deep philtrum, Cleft palate, Down... ORPHA:404440
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Fee... ORPHA:813
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Temple Syndrome
Bifid uvula ORPHA:254516
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Joint hypermobility, Cleft palate, Micrognathia OMIM:602196
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, ... OMIM:612938
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Everted lower lip vermilion, High p... ORPHA:1784
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Cleft palate, Micrognathia OMIM:606164
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Haddad Syndrome
Small for gestational age, Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic ner... ORPHA:99803
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Blepharocheilodontic Syndrome 1
Cleft upper lip, Hypodontia, Anal atresia, Conical tooth OMIM:119580
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... OMIM:610921
Porphyria Variegata
Abdominal pain, Ileus, Constipation, Abnormal autonomic nervous system physiology, Hepatocellular... ORPHA:79473
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... OMIM:612530
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Ileus, Vomiting, Constipat... OMIM:300352
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... ORPHA:77297
Meckel Syndrome, Type 10
Bifid uvula, Cleft palate, Camptodactyly OMIM:614175
Sympathetic Ophthalmia
Papilledema, Alopecia, Poliosis, Posterior synechiae of the anterior chamber, Posterior uveitis, ... ORPHA:79098
Triploidy
Intestinal malrotation, Micrognathia, Non-midline cleft lip, Cleft palate, Wide mouth, Macrogloss... ORPHA:3376
Vascular Hyalinosis
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Malabsorption OMIM:277175
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Hypopig... ORPHA:2896
Oculoauriculovertebral Spectrum With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ectopic anus, Short mandibular ... ORPHA:2549
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss ORPHA:83469
Tuberculosis
Weight loss ORPHA:3389
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Osteoporosis, Cleft palate OMIM:614838
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth, Maxillozygomatic ... ORPHA:1790
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Lymphoid Interstitial Pneumonia
Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrictive ventilato... ORPHA:79128
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Native American Myopathy
Joint laxity, Micrognathia, Cleft palate, Downturned corners of mouth, Congenital contracture, Hi... ORPHA:168572
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Thin vermilion border, Long philtr... OMIM:241410
Microphthalmia With Limb Anomalies
Cleft upper lip, Capitate-hamate fusion, Deep philtrum, 4-5 metacarpal synostosis, Cleft palate, ... OMIM:206920
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Aredyld Syndrome
Short stature, Cachexia, Intrauterine growth retardation, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:1133
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate ORPHA:2003
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Abnormality of the dentition, Wide mouth, Thick vermilion border, Bifid uv... OMIM:618505
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
3Mc Syndrome 2
Prominence of the premaxilla, Joint hypermobility, Limited elbow movement, Cleft upper lip, Crani... OMIM:265050
Holoprosencephaly 4
Median cleft lip, Median cleft lip and palate OMIM:142946
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Cle... OMIM:607812
Toriello-Lacassie-Droste Syndrome
Generalized hyperpigmentation, Aganglionic megacolon, Feeding difficulties, Growth delay, Failure... ORPHA:3339
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Lip pit, Joint stiffness, Micrognathia, Non-midline cleft lip, Fibrous ... ORPHA:1300
Down Syndrome
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Sparse hair, Anal... ORPHA:870
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Downturned corners of mouth, Short philtrum, Long philtrum, Bifid uvula OMIM:619121
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxill... ORPHA:178303
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Cleft palate... OMIM:106260
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... ORPHA:209964
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Cleft upper lip OMIM:600987
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Cleft palate, Growth delay, Anal atresia, Hypoplastic finge... OMIM:614749
Moebius Syndrome
Abnormality of the dentition, Micrognathia, High palate, Camptodactyly, Arthrogryposis multiplex ... OMIM:157900
Ermine Phenotype
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... ORPHA:999
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Tachypnea,... ORPHA:555874
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a... ORPHA:100079
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Cleft upper lip ORPHA:96181
Flynn-Aird Syndrome
Alopecia, Cachexia ORPHA:2047
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Oral leukoplakia, Nail dystrophy, Squamous cell carcinoma of th... OMIM:613988
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Intrauterine growth r... OMIM:616801
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding... OMIM:309583
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix OMIM:245650
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Pierre-Robin sequence, Cleft palate, Limitation of knee mobility, Limited... OMIM:183900
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Iris coloboma ORPHA:220497
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Hemifacial Atrophy, Progressive
Tongue atrophy, Poliosis, Horner syndrome, Microtia, Patchy alopecia OMIM:141300
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... ORPHA:819
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia, C... OMIM:601701
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub... ORPHA:2588
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Metat... ORPHA:2756
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Slender build, Small for gestational age, Eczema, Postnatal growth retardation, Nasogas... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Slender build, Small for gestational age, Eczema, Postnatal growth retardation, Nasogas... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Congenital contracture OMIM:615042
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Omodysplasia 2
Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cleft palate, Limited elbow flexio... OMIM:164745
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Mitral stenosis, Palpitations ORPHA:2847
Acrofacial Dysostosis, Palagonia Type
Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ... ORPHA:1787
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Cleft upper lip, Hypoplasia of the maxilla... OMIM:305400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... ORPHA:3253
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... OMIM:176000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Cleft palate ORPHA:1770
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Submucous cleft har... ORPHA:2671
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Generalized amyotrophy, Respiratory insufficiency due to muscle weakness, R... OMIM:613561
Neuhauser Syndrome
Osteopenia, Micrognathia, High palate, Long philtrum, Bifid uvula OMIM:249310
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Meckel Syndrome 12
Arthrogryposis multiplex congenita, Bifid uvula, Micrognathia OMIM:616258
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99413
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Mosaic Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99228
Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:881
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate ORPHA:2010
Joubert Syndrome
Feeding difficulties in infancy, Aganglionic megacolon, Iris coloboma, Highly arched eyebrow ORPHA:475
Holoprosencephaly 3
Cleft lip, Cleft palate, Solitary median maxillary central incisor, Malar flattening, Bifid uvula OMIM:142945
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Highly arched eyebrow, Supernumerary nipple, Anteriorly placed anus, Growt... ORPHA:247262
Sanjad-Sakati Syndrome
Postnatal growth retardation, Intestinal obstruction, Short stature, Severe intrauterine growth r... ORPHA:2323
Branchio-Oculo-Facial Syndrome
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower... ORPHA:1297
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion con... OMIM:271225
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis, Cleft palate OMIM:614880
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Iris coloboma, Highly arched eyebrow ORPHA:2318
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Iris coloboma ORPHA:220493
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Gastroesophageal reflux, Hypopigmented skin patches, Dysphagia ORPHA:220402
Culler-Jones Syndrome
Cleft palate, Cleft upper lip OMIM:615849
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat... OMIM:619103
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Na... ORPHA:206436
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Malabsorption ORPHA:452
Opitz Gbbb Syndrome
Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, Cleft palate, High palate, Unil... OMIM:300000
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Anterior synechiae of ... ORPHA:3214
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Micrognathia, Osteoarthritis, Limitation of joint mobility, Cleft ... ORPHA:1427
Recombinant 8 Syndrome
Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition, Micrognathia, Gingival ov... ORPHA:96167
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Micrognathia, Flexion contracture, Submucous cleft hard palate, Epiphyseal stippling,... OMIM:222765
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Treacher-Collins Syndrome
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip... ORPHA:861
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer, Cachexia, Malabsorption ORPHA:3217
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Malabsorption, Poor ... ORPHA:37
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conductive hearing i... ORPHA:207
Cri-Du-Chat Syndrome
Microretrognathia, Thick lower lip vermilion, Orofacial cleft, Downturned corners of mouth, Anter... OMIM:123450
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow m... OMIM:612582
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Short stature, Aganglionic megacolon, Hypoplastic fifth fingernail, Cleft palate OMIM:614207
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97278
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef... ORPHA:261236
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Retrognathia OMIM:243310
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema ORPHA:100050
Unilateral Ocular Duplication
Median cleft lip, Cleft palate ORPHA:3374
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Micrognathia, Multiple prenatal fractures, Flexion contracture, Cle... OMIM:616897
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula OMIM:119500
Postaxial Acrofacial Dysostosis
Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Micrognathia, Cleft palate,... OMIM:263750
Classic Phenylketonuria
Nausea and vomiting, Hypopigmentation of hair, Eczema, Growth delay, Hypopigmentation of the skin ORPHA:79254
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,... ORPHA:96170
Marshall Syndrome
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... OMIM:154780
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po... ORPHA:97280
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Loeys-Dietz Syndrome 4
Joint laxity, Eosinophilic infiltration of the esophagus, High, narrow palate, Joint hyperflexibi... OMIM:614816
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy... OMIM:211530
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Ataxia-Telangiectasia
Hypopigmentation of hair, Short stature, Premature graying of hair, Delayed puberty, Multiple caf... ORPHA:100
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Malar flattening, Unilateral cleft lip, Abnormal zygomatic bone morphology ORPHA:2511
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Genitopalatocardiac Syndrome
Downturned corners of mouth, Non-midline cleft lip, Cleft palate, Micrognathia ORPHA:2075
L1 Syndrome
Nausea and vomiting, Aganglionic megacolon ORPHA:275543
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation,... ORPHA:371364
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly OMIM:619751
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Cachexia, Optic atrophy, Numerous pigmented freckles ORPHA:220295
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Craniosynostosis, Micrognathia OMIM:601374
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis OMIM:613559
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive OMIM:600802
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, High, narrow palate, Obesity, Tru... OMIM:209900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... OMIM:618541
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Dental crowding, Intestinal malrotation, ... OMIM:300373
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate... ORPHA:109
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Obesity, Red hair, Mild short stature, Fair hair, Intrauterine growth retardation OMIM:614613
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Anal atresia, Bilateral cleft lip and palate, Conical tooth ORPHA:1997
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Fryns Syndrome
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus... ORPHA:2059
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig... ORPHA:913
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cachexia, Narrow palate, Facial diplegia, Gastroesopha... OMIM:618186
Desmosterolosis
Increased bone mineral density, Intestinal malrotation, Micrognathia, Submucous cleft hard palate... ORPHA:35107
Trisomy 13
Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, Long philtrum,... ORPHA:3378
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Short stature, Cachexia, Bowel incontinence, Optic atrophy ORPHA:702
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Dental malocclus... ORPHA:2959
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure t... ORPHA:70472
Chromosome 18Q Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Cleft upper lip, Cleft palate, Dow... OMIM:601808
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97261
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, High palate, Increased o... OMIM:113650
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Abnor... ORPHA:289390
Nijmegen Breakage Syndrome
Abnormal hair quantity, Anal stenosis, Short stature, Cachexia, Abnormal hair morphology, Anorect... ORPHA:647
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Short stature, Premature graying of hair, Nail ... ORPHA:3322
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... ORPHA:314585
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Constipation, Dysphagia, Fail... OMIM:613327
Pulmonary Alveolar Microlithiasis
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough... ORPHA:60025
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Kapur-Toriello Syndrome
Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cleft palate, Joint contracture... OMIM:244300
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, High, n... ORPHA:2658
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Non-midline cleft lip, Cleft palate, Micrognathia ORPHA:1908
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97283
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon, Rhizomelia, Malabsorption, Sparse eye... ORPHA:175
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Obesity, Poor suck, Feeding difficulties, Dysphagia,... ORPHA:411511
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Optic... ORPHA:847
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Synophrys, Ileus, Growth delay, High palate OMIM:620156
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Micrognathia, Flexion contractur... OMIM:605039
Griscelli Syndrome Type 2
Nausea and vomiting, Hypopigmentation of hair, Partial albinism, Premature graying of hair, Iris ... ORPHA:79477
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... ORPHA:98795
Fanconi Anemia
Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula,... ORPHA:84
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Sinusitis, Pericarditis... ORPHA:900
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Cerebrocostomandibular Syndrome
Anal stenosis, Calcaneal epiphyseal stippling, Cleft soft palate, Micrognathia, Carious teeth, Cl... OMIM:117650
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... OMIM:192430
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Malar flattening OMIM:201180
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infectious enceph... ORPHA:2552
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... ORPHA:160
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Griscelli Syndrome
Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Pyloric stenosis, Silver... ORPHA:381
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Oral leukoplakia OMIM:616353
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... OMIM:614091
Desbuquois Dysplasia 2
Joint laxity, Dental crowding, Advanced ossification of carpal bones, Cleft palate, Hypodontia, L... OMIM:615777
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Malaria
Respiratory distress ORPHA:673
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Sweeney-Cox Syndrome
Micrognathia, Velopharyngeal insufficiency, High palate, Short philtrum, Narrow mouth, Median cle... OMIM:617746
Opitz-Kaveggia Syndrome
Anal stenosis, Multiple joint contractures, Dental crowding, Intestinal malrotation, Cleft upper ... OMIM:305450
Frontofacionasal Dysplasia
Non-midline cleft lip, Cleft palate ORPHA:1791
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Vertebral hyperostosis, T... OMIM:164200
Galactose Epimerase Deficiency
Growth delay, Feeding difficulties, Nausea and vomiting, Weight loss ORPHA:79238
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function, Cachexia ORPHA:42
Naxos Disease
Cleft upper lip ORPHA:34217
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:608670
Squalene Synthase Deficiency
Failure to thrive in infancy, Optic nerve hypoplasia, Abnormality of hair pigmentation, Constipat... OMIM:618156
Toriello-Carey Syndrome
Aganglionic megacolon, Short stature, Sparse eyebrow, Postnatal growth retardation, Feeding diffi... ORPHA:3338
Renal Agenesis, Bilateral
Non-midline cleft lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Retrognathia, Cleft palate OMIM:165590
X-Linked Intellectual Disability, Cabezas Type
Short stature, Abnormal hair pattern, Cachexia, Synophrys, Obesity, High palate ORPHA:85293
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Rectal... ORPHA:79076
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... ORPHA:2554
Zaki Syndrome
Micrognathia, Wide mouth, Median pseudocleft lip, High palate, Short philtrum OMIM:619648
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy OMIM:616974
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Familial Visceral Myopathy
Abdominal distention, Anonychia, Aganglionic megacolon, Cleft palate ORPHA:2604
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Limited elbow movement, Sagittal craniosynostos... OMIM:101200
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate OMIM:600776
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Cerebrofaciothoracic Dysplasia
Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip ORPHA:1394
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
3Mc Syndrome 3
Radioulnar synostosis, Cleft palate, Cleft upper lip OMIM:248340
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Sickle Cell Disease
Hypoxemia, Hypertension OMIM:603903
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Eczema, Anorexia, Weight loss, Growth delay, Keratoconjunctivitis,... ORPHA:79242
Branchioskeletogenital Syndrome
Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, C... ORPHA:1299
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy OMIM:615597
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, High palate, Bifid uvula OMIM:300472
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High p... OMIM:123790
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Aplasia/Hypoplasia of t... ORPHA:238468
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micrognathia, Cleft palate, Incomp... OMIM:277170
White-Sutton Syndrome
Joint laxity, Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Thi... OMIM:616364
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Short stature, Bowel ... ORPHA:567
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip OMIM:273400
Microphthalmia With Limb Anomalies
Macrodontia, Tarsal synostosis, Hypoplasia of the premaxilla, Cleft upper lip, Micrognathia, Hypo... ORPHA:1106
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Short stature, Rhizomelia, Abnormal eyelash morp... ORPHA:818
Rett Syndrome
Cachexia, Constipation, Gastroesophageal reflux, Short stature OMIM:312750
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... ORPHA:2710
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... OMIM:311200
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Muscula... OMIM:608799
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Microglossia, Narrow internal auditory canal, Aplasia... ORPHA:990
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition OMIM:615802
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increas... OMIM:620278
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Elsahy-Waters Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Mandibular prognathia, Hypopl... OMIM:211380
Blue Rubber Bleb Nevus
Hypermelanotic macule, Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Orofaciodigital Syndrome Type 4
Median cleft lip, Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, High, n... ORPHA:2753
Koolen-De Vries Syndrome
Vertebral fusion, Cleft upper lip, Pyloric stenosis, Narrow palate, Cleft palate, High palate, Wi... OMIM:610443
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ... ORPHA:293967
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone OMIM:229400
Lymphedema-Distichiasis Syndrome
Cleft palate, Cleft upper lip ORPHA:33001
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Hypermelanotic macule, Diarrhea, Weight loss ORPHA:33276
Rh Deficiency Syndrome
Hypoxemia, Tachycardia, Tachypnea ORPHA:71275
Sickle Cell Anemia
Hypoxemia ORPHA:232
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Cleft lip, Hypoplasti... OMIM:616300
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... ORPHA:2750
Thoracoabdominal Syndrome
Cleft palate, Cleft upper lip OMIM:313850
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Short stature, Cleft palate, Ectopic anus, High palate, Failure to thrive,... ORPHA:2473
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Cachexia, Esophageal atresia, Narrow palate, ... ORPHA:3380
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure OMIM:614299
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard... OMIM:301022
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Joint laxity, Abnormality of the dentition, Cleft palate, Long philtrum, Bifid u... OMIM:300968
Lymphatic Malformation 5
Cleft palate OMIM:153200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Congenital contracture, Cleft palate, Cleft upper lip OMIM:613150
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Arterial Tortuosity Syndrome
Joint laxity, Hiatus hernia, Micrognathia, Flexion contracture, High palate, Long philtrum, Malar... OMIM:208050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrogl... ORPHA:453499
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Eczema, Abdominal pain, Celiac disease, Postnatal growth retardation, Ab... OMIM:212750
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Chromosome 15Q25 Deletion Syndrome
Thin vermilion border, Tented upper lip vermilion, Cleft palate, Cleft upper lip OMIM:614294
Meckel Syndrome, Type 6
Cleft palate, Cleft upper lip OMIM:612284
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Large for gestational age, Esophageal atresia, Cle... OMIM:229850
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Solitary Median Maxillary Central Incisor
Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft... OMIM:147250
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Optic atrophy, Paralytic ileus, Facial diplegia, Failure to thrive, Ga... ORPHA:254930
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle ... OMIM:618733
Hereditary Central Diabetes Insipidus
Growth delay, Diarrhea, Vomiting, Weight loss ORPHA:30925
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat... ORPHA:97214
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, 4... OMIM:268305
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... ORPHA:367
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu... OMIM:612863
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... ORPHA:69085
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... OMIM:301043
Acromelic Frontonasal Dysplasia
Wide mouth, Median cleft lip, Median cleft palate ORPHA:1827
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate ORPHA:2213
Catel-Manzke Syndrome
Joint laxity, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, H... OMIM:616145
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Sifrim-Hitz-Weiss Syndrome
Anteriorly placed anus, Fused cervical vertebrae, Bifid uvula OMIM:617159
Huntington Disease-Like 2
Weight loss ORPHA:98934
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Constricting Bands, Congenital
Cleft palate, Cleft upper lip OMIM:217100
Achondroplasia
Hypoxemia, Restrictive ventilatory defect ORPHA:15
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Obesity, Poor suck, Feeding difficulties, Constipati... ORPHA:98794
3Mc Syndrome 1
Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Radioulnar synostosis, Lambdoidal cran... OMIM:257920
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia OMIM:243440
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Reticulated skin pigmentation, Esophageal stricture, Chronic diarrhea, Premature g... OMIM:613989
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Iris coloboma, Anal atresia OMIM:607323
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Anorexia, Malabsorption,... ORPHA:79430
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
Kyphomelic Dysplasia
Limitation of joint mobility, Micrognathia, Cleft palate, Cleft upper lip OMIM:211350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Eczema, Proportionate short stature, Hyperpigmented/hypopigmented macules, Ato... OMIM:620331
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Cleft upper lip, Micrognathia, Trismus, Velopharyngeal insufficiency, Temp... OMIM:154400
Steinfeld Syndrome
Bifid uvula, Median cleft lip and palate OMIM:184705
Chronic Hiccup
Weight loss ORPHA:396
Seckel Syndrome
Sparse scalp hair, Short stature, Cachexia, Intrauterine growth retardation ORPHA:808
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Micrognathia, Flexion contractur... OMIM:130070
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Pentalogy Of Cantrell
Cleft palate, Non-midline cleft lip, Orofacial cleft ORPHA:1335
Acrocardiofacial Syndrome
Anal atresia, Camptodactyly of finger, Cleft palate, Cleft upper lip ORPHA:2008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Exaggerated median tongue furrow, Joint laxity, Intestinal pseudo-obstruction, Exagge... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Exaggerated median tongue furrow, Joint laxity, Intestinal pseudo-obstruction, Exagge... ORPHA:352665
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Micrognathia, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Lymphedema-Distichiasis Syndrome
Micrognathia, Cleft palate, Cleft upper lip OMIM:153400
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Bronchiectasis, Recurrent pneumonia, Steatorrhe... OMIM:219700
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Malrotation of colon, High,... OMIM:122470
Down Syndrome
Aganglionic megacolon, Short stature, Protruding tongue, Brushfield spots, Duodenal stenosis, Mac... OMIM:190685
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Long uvula, Micrognathia, Premature loss of teeth, Narrow palate, High palate, Period... ORPHA:536532
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Craniosynostosis, Cleft upper lip, Mic... OMIM:213980
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Cleft palate, Thick... OMIM:242840
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c... OMIM:223370
Hartsfield Syndrome
Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Hypoplasia of the frontal bone OMIM:615465
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Isaacs Syndrome
Weight loss ORPHA:84142
Interstitial Lung And Liver Disease
Hypoxemia, Dyspnea, Respiratory insufficiency, Cough OMIM:615486
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Attrv30M Amyloidosis
Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Aganglionic megacolon, Sparse scalp hair, Sho... OMIM:308205
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Short stature, Eczema, Pyloric stenosis, Gastroint... OMIM:270400
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Weight loss, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia ORPHA:216866
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Micrognathia, Carious teeth, Alveolar ridge overgrowth, Cleft palate, M... ORPHA:177907
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... ORPHA:79276
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Brittle hair, Gastritis, Hypopigmentation o... ORPHA:84064
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Generalized hyperpigmentation, Recurrent pneumonia, Synovi... ORPHA:47612
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cleft upper lip, Ham... OMIM:109400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Colitis, Nail dystrophy, Intrauterine growth r... OMIM:615190
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Congenital Disorder Of Glycosylation, Type It
Pierre-Robin sequence, Bifid uvula, Cleft palate, Micrognathia OMIM:614921
Au-Kline Syndrome
Sagittal craniosynostosis, Craniosynostosis, Dental malocclusion, Retrognathia, Cleft palate, Dow... OMIM:616580
Frontometaphyseal Dysplasia 2
Hip contracture, Elbow contracture, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, Cleft... OMIM:617137
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognathia, Osteoarthritis, Hypo... ORPHA:828
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Cleft upper lip, Micrognathia, Cleft palate, ... ORPHA:3103
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l... ORPHA:50
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Clef... OMIM:610828
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Myopathy, Increased variability in muscle fiber diameter, Inspiratory strid... OMIM:604377
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula OMIM:601552
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Micrognathia, Pyloric stenosis, Submucous cleft hard pa... ORPHA:2461
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Optic disc coloboma, Aganglionic megacolon, Iris coloboma ORPHA:959
Loeys-Dietz Syndrome
Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofacial cleft, Joint hyperflexibility,... ORPHA:60030
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate, Micrognathia ORPHA:2282
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Joint hypermobility, Craniosynostosis, Deep philtrum, High palate, Wide... OMIM:617506
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... ORPHA:275761
Nail-Patella Syndrome
Limited elbow extension, Cleft palate, Cleft upper lip OMIM:161200
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft palate, Cleft upper lip OMIM:600460
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... OMIM:612651
Craniofrontonasal Syndrome
Joint laxity, Abnormality of the dentition, Cleft upper lip, Cleft palate, Coronal craniosynostosis OMIM:304110
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Meester-Loeys Syndrome
Gingival overgrowth, High palate, Camptodactyly, Malar flattening, Joint contracture, Bifid uvula... OMIM:300989
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Vacterl/Vater Association
Anal atresia, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate ORPHA:887
Larsen Syndrome
Joint laxity, Vertebral fusion, Cleft upper lip, Cleft palate, Hypodontia, Multiple carpal ossifi... OMIM:150250
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Weight loss, ... ORPHA:3208
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Bronchiectasis, Weight loss ORPHA:1164
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation, Aganglionic megacolon OMIM:613603
Poliomyelitis
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea ORPHA:2912
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Yao Syndrome
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Mandibular prognathia, Cleft soft palate, Joint hypermobility... OMIM:619950
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Anal atresia, Cleft upper lip OMIM:264480
Schinzel-Giedion Syndrome
Aganglionic megacolon, Failure to thrive in infancy, Generalized hypertrichosis, Recurrent pneumo... ORPHA:798
Saethre-Chotzen Syndrome
Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ... ORPHA:794
Cockayne Syndrome
Optic disc pallor, Abnormality of retinal pigmentation, Dry hair, Severe short stature, Cachexia,... ORPHA:191
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Contracture... ORPHA:457279
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Zttk Syndrome
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... OMIM:617140
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Gastroesophageal ref... OMIM:620040
Distal Deletion 10Q
Hypoplastic toenails, Congenital sensorineural hearing impairment, Widow's peak, Cochlear malform... ORPHA:96148
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Wide mouth, Median pseudocleft lip, Retrognathia OMIM:619758
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Osteogenesis Imperfecta
Intestinal obstruction, Rhizomelia, Short stature, Small for gestational age, Osteoarthritis, Gro... ORPHA:666
H Syndrome
Recurrent fractures, Malabsorption, Cleft upper lip, Osteolysis, Gingival overgrowth, Camptodactyly ORPHA:168569
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow... OMIM:268310
Immunodeficiency With Hyper-Igm, Type 1
Hypoxemia OMIM:308230
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Cervical C5/C6 vertebrae fusi... OMIM:613458
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Micrognathia, Submucous cleft hard palat... ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Micrognathia, Cleft upper lip, Cleft palate, Congenital contracture, Anal atresia OMIM:236670
Carnitine Deficiency, Systemic Primary
Respiratory distress, Myopathy, Reduced muscle carnitine level OMIM:212140
Loeys-Dietz Syndrome 1
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognathia, Cleft p... OMIM:609192
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Joint hyperflexibility, Bifid... ORPHA:3047
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypoxemia ORPHA:456312
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Hypoxemia, Mitral regurgita... ORPHA:284979
Mowat-Wilson Syndrome
Aganglionic megacolon, Short stature, Supernumerary nipple, Pyloric stenosis, Abdominal distentio... OMIM:235730
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Cleft palate, Cleft upper lip OMIM:603671
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Short stature, Cachexia, Feeding difficulties... ORPHA:800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Smoo... OMIM:619321
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Respiratory insufficiency due t... OMIM:615512
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1166
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, White hair, Ocular albinism, High palate, Generalized hypopigmentation, Iris hypop... ORPHA:2720
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Optic atrophy, Cachexia OMIM:610965
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Gastroesophageal reflux, Low-set... ORPHA:251061
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hypopigmentation of hair, Decreased nerve conduction velocit... OMIM:214500
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Allodynia ORPHA:83452
Short Syndrome
Alopecia, Severe short stature, Poor appetite, Abnormal pupil morphology, Weight loss, Hypoplasia... ORPHA:3163
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th... ORPHA:653
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Mesomelia-Synostoses Syndrome
Microretrognathia, Micrognathia, Absent uvula, Carpometacarpal synostosis, Tarsometatarsal synost... OMIM:600383
Muir-Torre Syndrome
Colonic diverticula, Ovarian neoplasm, Colon cancer, Adenoma sebaceum, Benign gastrointestinal tr... OMIM:158320
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Salmonella osteomyel... OMIM:209950
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy ORPHA:254913
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mouth, Retrognat... OMIM:301030
Short Stature, Brussels Type
Calcification of cartilage ORPHA:2867
Tetraamelia Syndrome 1
Anal atresia, Micrognathia, Cleft palate, Cleft upper lip OMIM:273395
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Nausea, Abdominal distention, Decreased body weight, Recurrent infectio... ORPHA:51890
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Cleft upper lip, Micrognathia, Osteoporosis, Cleft palate, Downturne... ORPHA:280
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Cle... OMIM:263650
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Cleft soft palate OMIM:614557
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microglossia, Anal atresia OMIM:146510
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Alg9-Cdg
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Micrognathia, Wide mouth, Abnormal ... ORPHA:79328
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Skeletal muscle atrophy OMIM:619272
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Feeding difficulties in... ORPHA:171876
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Mic... OMIM:115150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Cleft palate OMIM:304050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... ORPHA:1018
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusion, Cough, Pulm... OMIM:181000
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Contractures of the large joints, Optic atrophy ORPHA:329178
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,... OMIM:604292
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Flexion contracture, Optic atrophy OMIM:619383
Intussusception
Intussusception OMIM:147710
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia ORPHA:556955
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Accessory oral frenulum, Craniosynostosis, Micrognathia, Wide mouth, Macroglossia, Wi... OMIM:266920
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Holoprosencephaly 14
Cleft lip, Median cleft lip, Cleft palate OMIM:619895
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Limb muscle weakness, Hyperventilation ORPHA:79241
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Hypoplasia of ... OMIM:129900
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Deep philtrum, Submucous cleft hard palate, Thin lower... OMIM:619194
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Holoprosencephaly
Median cleft lip, Bilateral cleft lip, Deep philtrum, Tooth agenesis, Intestinal atresia, Branchi... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtr... OMIM:300967
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Growth dela... OMIM:276700
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Tracheoesophageal fi... ORPHA:138
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Distal Deletion 12Q
Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyl... ORPHA:96149
Ring Chromosome 7 Syndrome
Mandibular prognathia, Cleft palate, Thin vermilion border, Short philtrum, Median cleft palate, ... ORPHA:1449
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Lacunar halos around chondrocytes OMIM:256050
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Multiple Osteochondromas
Arthritis, Intestinal obstruction, Short stature, Dysphagia ORPHA:321
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss, Enthesitis, Arthriti... ORPHA:29207
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Huntington Disease-Like 2
Weight loss OMIM:606438
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med... OMIM:269860
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Immunodeficiency 31C
Chronic oral candidiasis, Villous atrophy, Osteomyelitis, Short stature, Eczema, Diarrhea, Bronch... OMIM:614162
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture ORPHA:544503
Baller-Gerold Syndrome
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Microg... OMIM:218600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia ORPHA:226313
Trichohepatoenteric Syndrome 1
Villous atrophy, Narrow mouth, Wide mouth, Long philtrum, Bifid uvula OMIM:222470
Chronic Visceral Acid Sphingomyelinase Deficiency
Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab... ORPHA:77293
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Abnormal autonom... ORPHA:330001
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Trisomy 8P
Multiple joint contractures, Malrotation of small bowel, Cleft palate, Thin vermilion border, Ret... ORPHA:264450
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Short stature, Small for gestational age, Gastroparesis, Feeding diffic... ORPHA:98754
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Abdominal pain, Weight loss, Arthritis, Hepatocellular carcinoma, Chronic hep... ORPHA:465508
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism, Failure to th... ORPHA:1842
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of ... OMIM:249000
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Conjunctivi... OMIM:103285
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Thick vermilion border, Exaggerated cupid's bow, Bifid uvula, Narrow mouth OMIM:619480
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Graves Disease, Susceptibility To, 1
Onycholysis, Weight loss OMIM:275000
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Osteoporosis, Bilate... OMIM:301068
Cystic Fibrosis
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... ORPHA:586
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Feeding difficulties in in... OMIM:176270
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Gastroparesis, Nasogastric tube feeding in infancy, Xero... ORPHA:739
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Short stature, Small for gestational age, Gastroparesis, Feeding diffic... ORPHA:98793
Gm1 Gangliosidosis
Short stature, Optic atrophy, Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal r... ORPHA:354
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... OMIM:620369
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver ORPHA:69077
Nephroblastoma
Aniridia, Neoplasm of the liver, Abdominal pain, Weight loss ORPHA:654
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Diamond-Blackfan Anemia 1
Micrognathia, Cleft upper lip, Cleft palate, Colon cancer, High palate, Retrognathia OMIM:105650
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Short stature, Small for gestational age, Gastroparesis, Feeding diffic... ORPHA:177904
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... ORPHA:31205
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ... ORPHA:233
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Short stature, Small for gestational age, Gastroparesis, Feeding diffic... ORPHA:177901
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Xerostomia, Increased body weight, Poor suck, Feeding di... ORPHA:398069
Wolf-Hirschhorn Syndrome
Vertebral fusion, Cleft upper lip, Micrognathia, Malrotation of small bowel, Cleft palate, Orofac... OMIM:194190
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Focal Myositis
Myositis, Weight loss ORPHA:48918
Koolen-De Vries Syndrome
Hypopigmentation of hair, Short stature, Abnormality of hair texture, Feeding difficulties in inf... ORPHA:96169
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Joint hypermobility, Micrognathia,... OMIM:612474
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Limb muscle weakness, Cough, Pleural effusion, Abnormal... ORPHA:1546
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy,... ORPHA:79330
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Flexion contracture, Micrognathia, Cleft upper lip OMIM:308050
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Atresia of the external audi... ORPHA:2306
Tolchin-Le Caignec Syndrome
Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth OMIM:618971
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Malabsorption, Di... ORPHA:98850
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Micrognathia, Ena... ORPHA:2363
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... ORPHA:100082
Tetrasomy 9P
Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, Micrognathia, Cl... ORPHA:3310
Semilobar Holoprosencephaly
Median cleft lip, Flexion contracture, Cleft palate, High palate, Solitary median maxillary centr... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Flexion contracture, Cleft palate, High palate, Solitary median maxillary centr... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Flexion contracture, Cleft palate, High palate, Solitary median maxillary centr... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Flexion contracture, Cleft palate, High palate, Solitary median maxillary centr... ORPHA:93924
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Vertebral fusion, Camptodactyly of finger, Cleft upper lip, High, narrow p... ORPHA:373
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Japanese Encephalitis
Respiratory distress, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial ... ORPHA:79139
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... OMIM:620186
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Familial Glucocorticoid Deficiency
Generalized hyperpigmentation, Anorexia, Diarrhea, Weight loss, Episodic abdominal pain, Vomiting... ORPHA:361
Familial Pancreatic Carcinoma
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... ORPHA:1333
Peters-Plus Syndrome
Joint laxity, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated ... OMIM:261540
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abdominal pain, Pericarditis, Weight loss ORPHA:767
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism, Cerebral atrophy, Low-set ears, Macrotia OMIM:617050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Classic Hodgkin Lymphoma
Poor appetite, Skin rash, Anorexia, Weight loss ORPHA:391
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... ORPHA:679
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Craniosynostosis, Abnormality of the dentition, Malabso... ORPHA:235
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Mowat-Wilson Syndrome
Dependency on intravenous nutrition, Aganglionic megacolon, Short stature, Bowel incontinence, Cl... ORPHA:2152
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Cachexia, Esophageal varix, Feeding difficulties, Growth delay, Gastric ulcer, Bacte... ORPHA:2072
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Recurrent pneumonia, Optic atrophy, Macroglossia OMIM:617303
Juvenile Huntington Disease
Weight loss ORPHA:248111
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Xerostomia, Obesity, Abdominal obesity, Failure to thrive, Hypopigmenta... ORPHA:398079
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture OMIM:618891
Diamond-Blackfan Anemia
Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon ORPHA:124
Loeys-Dietz Syndrome 2
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognathia, Osteopo... OMIM:610168
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Abnormality of skin pigmentation, Gastroesophageal reflux, Nause... ORPHA:99921
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubu... ORPHA:139402
Follicular Lymphoma
Weight loss ORPHA:545
Mast Cell Sarcoma
Weight loss ORPHA:66661
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Cachex... ORPHA:744
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Sotos Syndrome
Aganglionic megacolon, Sparse anterior scalp hair, Feeding difficulties, Gastroesophageal reflux,... ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Aganglionic megacolon, Short stature, Highly arched eyebrow, Bowel incontinence, Cl... ORPHA:261552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Giant Cell Arteritis
Alopecia, Pericarditis, Anorexia, Abdominal pain, Optic atrophy, Weight loss, Arthritis, Gastroin... ORPHA:397
Coffin-Siris Syndrome 12
Joint laxity, Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard pa... OMIM:619325
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:1488
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Gastroesophageal reflux, Generalized h... OMIM:608233
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Weight lo... ORPHA:100080
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Alopecia, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight ... ORPHA:93672
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Neu-Laxova Syndrome 1
Cleft upper lip, Swollen lip, Micrognathia, Thick lower lip vermilion, Cleft palate, Camptodactyl... OMIM:256520
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea ORPHA:90003
Perry Syndrome
Weight loss ORPHA:178509
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia OMIM:156550
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Short stature, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cl... ORPHA:261537
Adams-Oliver Syndrome 1
Cleft palate, Cleft upper lip OMIM:100300
Fatal Familial Insomnia
Weight loss, Constipation, Abnormal autonomic nervous system physiology, Dysphagia OMIM:600072
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gast... ORPHA:732
Camurati-Engelmann Disease
Facial palsy, Cachexia, Anorexia, Feeding difficulties in infancy, Optic atrophy, Delayed puberty... ORPHA:1328
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... ORPHA:93932
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Micrognathia, Esophageal atresia, Abnormal pelvis bone ossification, Ectopic anu... ORPHA:93271
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Myopathy OMIM:115197
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis, Bloody diarrhea... ORPHA:90038
Non-Functioning Paraganglioma
Episodic abdominal pain, Cranial nerve compression, Nausea, Weight loss ORPHA:94080
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Fraser Syndrome 1
Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Dental malocclusion, Cleft... OMIM:219000
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:3309
Campomelic Dysplasia
Joint laxity, Irregular dentition, Poorly ossified cervical vertebrae, Absent sternal ossificatio... OMIM:114290
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Joint hypermobility, Sagittal craniosynostosis, Hypoplasia of the ma... ORPHA:500150
Mucolipidosis Type Ii
Dry hair, Short stature, Postnatal growth retardation, White hair, Fine hair, Weight loss, Protub... ORPHA:576
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Short stature, Ocular albinism, Growth delay, Iris hypopigmentation ORPHA:2719
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Pulmonary arterial hypertension, Respiratory failure, Central apnea OMIM:616482
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Macroglossia, Pulmonary arterial hypertension ORPHA:363705
Wilson Disease
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... ORPHA:905
Fraser Syndrome
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... ORPHA:2052
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Submucous cleft hard palate, High palate, Long philtrum ORPHA:1340
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, High pala... OMIM:607872
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... ORPHA:144
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Hypoplasia of the iris, Slende... ORPHA:558
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, High palate, Long philtrum, Malar ... OMIM:620330
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... ORPHA:100078
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, W... ORPHA:100075
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Hypopigmentation of hair, Osteomyelitis, Malabs... ORPHA:565
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... ORPHA:139417
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Recurrent bacterial skin infection... ORPHA:167
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Bifid uvula, Agenesis of permanent teeth OMIM:181270
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation... ORPHA:90354
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De... OMIM:619503
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Poems Syndrome
Papilledema, Leukonychia, Weight loss, Hyperpigmentation of the skin, Hypertrichosis ORPHA:2905
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Limb hypertonia OMIM:620306
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microt... ORPHA:90024
Focal Dermal Hypoplasia
Delayed eruption of teeth, Joint laxity, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ... OMIM:305600
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair, High palate ORPHA:1974
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Odynophagia, Malnutrition, Weight loss, Fee... ORPHA:221098
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Keratoconjunctivitis s... ORPHA:309031
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglottis, Hypodo... OMIM:617088
Tick-Borne Encephalitis
Facial palsy, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphol... ORPHA:297
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... ORPHA:440437
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... ORPHA:17
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pr... OMIM:619488
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Micrognat... ORPHA:709
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... ORPHA:85443
Branchiooculofacial Syndrome
Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, Pyloric steno... OMIM:113620
Microphthalmia, Syndromic 6
Micrognathia, Cleft palate, High palate, Lambdoidal craniosynostosis, Microglossia, Retrognathia,... OMIM:607932
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency ORPHA:333
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Retrognathia ORPHA:268261
Neuroocular Syndrome
Hyperextensibility of the finger joints, Short uvula, Submucous cleft hard palate, Downturned cor... OMIM:619539
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Optic atrophy, Stridor, Macroglossia, Pulmonary arteri... ORPHA:505248
Viss Syndrome
Joint laxity, Chronic gastritis, Microretrognathia, Duodenitis, Intestinal malrotation, Cleft sof... OMIM:619472
Leishmaniasis
Rhinitis, Anorexia, Weight loss ORPHA:507
Cystinosis, Nephropathic
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia,... OMIM:219800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi... OMIM:309800
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Loeys-Dietz Syndrome 3
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis, Knee ... OMIM:613795
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Flexion contracture OMIM:616271
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Abnormal autonomic nervous system physiology, Aspi... ORPHA:2131
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Ragged-red muscle fibers, Hypervent... ORPHA:255210
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Rodrigues Blindness
Nasal flaring OMIM:268320
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Chronic otitis media, Weight loss ORPHA:3226
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Submucous cleft hard palate, Flexio... OMIM:275210
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia OMIM:607143
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm... ORPHA:1662
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Osteomyelitis, High, narrow palate, Short uvula, Broad ph... OMIM:619475
Brucellosis
Anorexia, Knee osteoarthritis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Epididy... ORPHA:1304
Gaucher Disease, Perinatal Lethal
Respiratory distress, Arthrogryposis multiplex congenita, Apnea OMIM:608013
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Feeding difficulties OMIM:617239
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat... ORPHA:536467
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Halperin-Birk Syndrome
Aspiration, Flexion contracture, Optic atrophy, Congenital diaphragmatic hernia OMIM:618651
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis ORPHA:35858
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Insulin-Resistance Syndrome Type B
Alopecia, Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight... ORPHA:2298
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Dysphagia ORPHA:1332
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, E... ORPHA:85408
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... ORPHA:99867
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Failure to thrive OMIM:256700
Autosomal Dominant Robinow Syndrome
Median cleft lip and palate, Camptodactyly of finger, Micrognathia, Open bite, High, narrow palat... ORPHA:3107
Adrenocortical Carcinoma
Abdominal pain, Weight loss, Increased body weight, Hypertrichosis ORPHA:1501
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... ORPHA:537
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... ORPHA:3206
Craniofacial Microsomia 1
Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Wide mou... OMIM:164210
Thymic Carcinoma
Weight loss ORPHA:99868
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Optic atrophy, Feeding difficulties, Weight loss, I... OMIM:619487
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Cleft upper lip, Craniosynostosis, Micrognathia, Elbow flexion contrac... OMIM:268300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1120
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Behçet Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Myositis, Increased inflammatory response, Acne... ORPHA:117
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft ... OMIM:312870
Digeorge Syndrome
Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recurrent sinusitis... OMIM:188400
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Rhabdomyolysis, Cough, Hyperventilation ORPHA:90068
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress OMIM:151210
Trigeminal Neuralgia
Cranial nerve compression, Allodynia, Feeding difficulties ORPHA:221091
Hydrolethalus Syndrome 1
Median cleft lip, Cleft palate, Micrognathia OMIM:236680
Bronchial Neuroendocrine Tumor
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure ORPHA:97287
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Benign Schwannoma
Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwanno... ORPHA:252164
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho... ORPHA:100086
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress OMIM:231680
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Myocardial necrosis OMIM:260400
8P23.1 Microdeletion Syndrome
Short stature, Obesity, Weight loss, Growth delay, High palate, Intrauterine growth retardation ORPHA:251071
Scimitar Syndrome
Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... ORPHA:185
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Retinal pigment epithelial mottling, Weight loss, D... OMIM:607459
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea OMIM:618426
Klatskin Tumor
Cholangiocarcinoma, Weight loss ORPHA:99978
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... ORPHA:36426
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Ethylene Glycol Poisoning
Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogr... ORPHA:672
Emanuel Syndrome
Joint contracture, Congenital diaphragmatic hernia, Torticollis, Recurrent sinusitis OMIM:609029
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... OMIM:615846
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Rhinitis, Crackles ORPHA:319213
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:2311
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Caroli Disease
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdomin... ORPHA:53035
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft lip, Orofacial cleft ORPHA:3186
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Sepsis In Premature Infants
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance ORPHA:90051
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Joint contracture of the hand, Congenital finger flexion contracture... ORPHA:363528
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Riddle Syndrome
Short stature, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, ... ORPHA:420741
Norrie Disease
Cachexia, Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Delayed puberty, Fail... ORPHA:649
Esophageal Atresia
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... ORPHA:1199
Achondroplasia
Respiratory distress, Upper airway obstruction OMIM:100800
Adult-Onset Still Disease
Cartilage destruction ORPHA:829
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the de... ORPHA:3455
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Pancre... ORPHA:370348
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Optic atrophy, Pulmonary embolism ORPHA:79282
Keutel Syndrome
Calcification of cartilage ORPHA:85202
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleura... ORPHA:3260
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis... ORPHA:781
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... ORPHA:100085
Charge Syndrome
Anal stenosis, Cleft upper lip, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Clef... OMIM:214800
Tropical Pancreatitis
Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea ORPHA:103918
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity, Facial hypotonia, Intrinsic ha... OMIM:615273
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Seckel Syndrome 9
Asthma, Congenital diaphragmatic hernia OMIM:616777
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic abdominal pain, Cranial nerve compression, Nausea, Weight loss ORPHA:276621
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Lower limb amyotrophy, Upper ... OMIM:616268
Acute Promyelocytic Leukemia
Stomatitis, Abdominal pain, Anorexia, Weight loss ORPHA:520
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... ORPHA:49041
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Camptodactyly, Emphysema, Joint contracture of the hand OMIM:224690
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion ORPHA:340
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Colon perforation, Pancreatic hypoplasia, Microcolon OMIM:600001
Renal Nutcracker Syndrome
Orthostatic hypotension, Abdominal pain, Weight loss, Abnormal autonomic nervous system physiolog... ORPHA:71273
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveitis, Ski... ORPHA:91500
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Episodic abdominal pain, Weight loss, Aniridia, Nausea ORPHA:29072
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia OMIM:219100
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
2Q37 Microdeletion Syndrome
Tracheomalacia, Congenital diaphragmatic hernia ORPHA:1001
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix ORPHA:86822
Perry Syndrome
Weight loss OMIM:168605
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Cranial nerve compression, D... ORPHA:652
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy OMIM:256810
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... OMIM:265000
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, I... OMIM:601803
Mgat2-Cdg
Respiratory distress ORPHA:79329
Vipoma
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem... ORPHA:97282
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Dermatomyositis
Abnormal hair quantity, Pericarditis, Gastrointestinal stroma tumor, Feeding difficulties in infa... ORPHA:221
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media OMIM:608710
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting ORPHA:20
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia ORPHA:411602
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea ORPHA:98849
Moderate Hemophilia A
Cartilage destruction ORPHA:169805
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Anorexia, Weight loss ORPHA:134
Kniest Dysplasia
Abnormal cartilage collagen ORPHA:485
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Alopecia, Skin rash, Anorexia, Pustule, Myocarditis, W... ORPHA:50918
Listeriosis
Respiratory distress, Respiratory failure, Rhabdomyolysis, Pneumonia ORPHA:533
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Congenital diaphragmatic hernia OMIM:194080
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis ORPHA:52417
Leptospirosis
Respiratory distress, Papilledema, Rhabdomyolysis, Cough, Pleural effusion ORPHA:509
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Sarcoidosis
Abnormality of the gastrointestinal tract, Alopecia, Hyperpigmentation of the skin, Facial palsy,... ORPHA:797
Isolated Arrhinia
Respiratory distress ORPHA:1134
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Aortic Arch Interruption
Respiratory distress, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea ORPHA:2299
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia ORPHA:2556
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Laryngotracheomalacia, Optic disc coloboma, Congenital diaphragm... OMIM:618454
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Oligomeganephronia
Optic disc coloboma, Congenital diaphragmatic hernia ORPHA:2260
Polycythemia Vera
Gastrointestinal hemorrhage, Abdominal pain, Weight loss ORPHA:729
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Cystic Echinococcosis
Abdominal symptom, Membranous nephropathy, Weight loss ORPHA:400
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urinary bladde... ORPHA:449395
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Parathyroid Carcinoma
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,... ORPHA:143
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Sparse scalp hair, Acne, Neoplasm of the stomach, Anorex... ORPHA:99889
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Alveolar Echinococcosis
Cholangitis, Abdominal pain, Weight loss, Vomiting, Decreased liver function, Cutaneous abscess ORPHA:284
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Congenital diaphragmatic hernia, Respiratory insufficiency OMIM:601186
Osteoglophonic Dysplasia
Respiratory distress, Camptodactyly of finger OMIM:166250
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Osteoarthritis, Loss of eyelashes, Weigh... ORPHA:740
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Tropical Endomyocardial Fibrosis
Malnutrition, Cachexia ORPHA:75565
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Mosaic Trisomy 1
Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1692
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress OMIM:617156
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
African Trypanosomiasis
Papilledema, Alopecia, Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Opt... ORPHA:3385
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology ORPHA:2396
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
7Q11.23 Microduplication Syndrome
Tracheomalacia, Abnormal optic disc morphology, Congenital diaphragmatic hernia ORPHA:96121
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Prolonged G2 phase of cell cycle, Tracheoesophageal fistula OMIM:227646
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss ORPHA:35687
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Weight loss ORPHA:764
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Nausea and vomiting, Weight loss, Vomiting, Delayed puberty ORPHA:91347
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ... ORPHA:79078
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Congenital diaphragmatic hernia ORPHA:268249
Gitelman Syndrome
Respiratory distress, Rhabdomyolysis ORPHA:358
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia ORPHA:2255
Opitz Gbbb Syndrome
Stridor, Congenital diaphragmatic hernia, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Rubinstein-Taybi Syndrome 1
Respiratory distress, Flexion contracture OMIM:180849
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia OMIM:614080
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Osteoporosis of vertebrae, Median cleft lip and palate ORPHA:95494
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Abnormality of peripheral nerve conduction, Weight loss ORPHA:79102
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Fanconi Anemia, Complementation Group C
Flexion contracture, Prolonged G2 phase of cell cycle OMIM:227645
8Q24.3 Microdeletion Syndrome
Respiratory distress, Optic nerve hypoplasia ORPHA:508488
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Doors Syndrome
Respiratory distress, Optic atrophy, Aspiration pneumonia ORPHA:79500
Holoprosencephaly 1
Median cleft lip and palate OMIM:236100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers ORPHA:83617
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Floating-Harbor Syndrome
Celiac disease, Cochlear malformation, Gastroesophageal reflux, Low-set ears, Conductive hearing ... ORPHA:2044
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Weight loss ORPHA:29073
Pagod Syndrome
Optic atrophy, Congenital diaphragmatic hernia ORPHA:991
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Failure to thrive, Weight loss ORPHA:99885
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Familial Thrombocytosis
Weight loss ORPHA:71493
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency OMIM:617641
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Congenital diaphragmatic hernia OMIM:614437
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Choreoacanthocytosis
Protruding tongue, Weight loss, Arthritis, Abnormal autonomic nervous system physiology, Dysphagi... ORPHA:2388
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Myocardial calcification ORPHA:51608
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia ORPHA:116
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Multiple joint contractures ORPHA:99646
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia ORPHA:1308
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia OMIM:135900
Cardiac-Urogenital Syndrome
Tracheomalacia, Congenital diaphragmatic hernia OMIM:618280
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Calcification of cartilage, Progressive calcification of costochondral cartilage OMIM:271665
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finger OMIM:613406
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Alström Syndrome
Respiratory distress, Optic disc pallor, Chronic pulmonary obstruction, Recurrent pneumonia, Rest... ORPHA:64
Pmm2-Cdg
Respiratory distress, Multiple joint contractures, Aspiration pneumonia ORPHA:79318
Goodpasture Syndrome
Glomerulonephritis, Weight loss OMIM:233450

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 Ednrb

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 Ednrb.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ednrbtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ednrbtm208553(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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