| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.9%) |
27017359 |
[Malignant infantile osteopetrosis revealed by choanal atresia: A case report]. Ba ID, Ba A, Thiongane A, Ly/Ba A, Ba M, Fattah M, Faye PM, Cisse DF, Diouf FN. Arch Pediatr. 2016;23(5):514-8. |
| Hepatosplenomegaly Normochromic anemia | ||
| TCIRG1 | ||
| Anemia Blood Transfusion Bone Density Conservation Agents Choanal Atresia Fatal Outcome Females Glucocorticoids Hemorrhage Hepatomegaly Homo sapiens Infant Osteopetrosis Splenomegaly Thrombocytopenia | ||
| 2 (31.4%) |
19816270 |
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. Handler MZ, Alabi O, Miller J. J Craniofac Surg. 2009;20(5):1417-9. |
| Growth delay Anemia Pneumonia | ||
| rs148942765 | ||
| Airway Obstruction Anemia, Diamond-Blackfan Choanal Atresia Females Follow-Up Studies Homo sapiens Infant, Newborn Mandible Mandibulofacial Dysostosis Micrognathism Osteogenesis, Distraction Polysomnography X-Ray Computed Tomography | ||
| 3 (31.2%) |
26808426 |
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatman-Iwanowska A, Zoghi S, Khatri U, Tajdini P, Fallahi GH, Gissen P, Rezaei N. Eur J Med Genet. 2016;59(4):237-9. |
| Renal tubular dysfunction Cholestasis Renal tubular acidosis | ||
| VIPAS39 | ||
| Arthrogryposis Child, Preschool Cholestasis Homo sapiens Intrahepatic Cholestasis Male Mutation Phenotype Renal Insufficiency Sequence Analysis, DNA Sibling Vesicular Transport Proteins | ||
| 4 (28.8%) |
17486625 |
Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts. Horvath GA, Armstrong L. Am J Med Genet A. 2007;143A(11):1231-5. |
| Hypothyroidism Accessory spleen Absent gallbladder | ||
| Choanal Atresia Fatal Outcome Females Homo sapiens Infant Neck Nipples Syndrome | ||
| 4 (28.8%) |
9856560 |
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ. Am J Med Genet. 1998;80(4):335-42. |
| Ventricular septal defect Accessory spleen Absent gallbladder | ||
| Adult Fatal Outcome Females Homo sapiens Male Nipples Pregnancy Syndrome | ||
| 6 (27.2%) |
1652319 |
Klippel-Feil syndrome. An unusual association with Sprengel deformity, omovertebral bone, and other skeletal, hematologic, and respiratory disorders. A case report. Greenspan A, Cohen J, Szabo RM. Bull Hosp Jt Dis Orthop Inst. 1991;51(1):54-62. |
| Plagiocephaly Anemia | ||
| Anemia Child Choanal Atresia Congenital Hand Deformities Head Homo sapiens Klippel-Feil Syndrome Male | ||
| 7 (25.2%) |
11471162 |
Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies. Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM. Am J Med Genet. 2001;101(4):382-7. |
| Microcephaly Asplenia | ||
| BMP4 FGF2 TGFB1 WNT1 | ||
| Craniofacial Abnormalities Fatal Outcome Functional Laterality Gene Expression Regulation, Developmental Homo sapiens Infant, Newborn Male Mutation Scrotum | ||
| 7 (25.2%) |
1590982 |
Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome? Meinecke P, Peper M. Genet Couns. 1992;3(1):53-6. |
| Intrauterine growth retardation Polysplenia | ||
| ALX3 | ||
| Choanal Atresia Congenital Heart Defects Ectromelia Females Fetal Growth Retardation Gallbladder Homo sapiens Infant, Newborn Kidney Spleen Syndrome Uterus Vagina | ||
| 9 (23.0%) |
25804022 |
De novo partial trisomy distal 4q: a case report. Gorukmez O, Sag SO, Gorukmez O, Ture M, Gulten T, Yakut T. Genet Couns. 2014;25(4):423-8. |
| Hypothyroidism Cholecystitis | ||
| Choanal Atresia Cholecystitis Chromosomes, Human, Pair 4 Females Homo sapiens Hypothyroidism Infant Trisomy | ||
| 10 (21.6%) |
29575628 |
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. Am J Med Genet A. 2018;176(4):997-1000. |
| Chorioretinal coloboma Metabolic acidosis Secretory diarrhea | ||
| SPINT2 | ||
| c|DUP|166_167|TA| c|SUB|A|488|G;RS#:121908403 p|FS|N|57|T|24 p|SUB|Y|163|C;RS#:121908403 | ||
| Alleles Amino Acid Substitution DNA Mutational Analysis Diarrhea Facies Genetic Association Studies Homo sapiens Infant Male Membrane Glycoproteins Mutation Ophthalmoscopes Optic Nerve Phenotype Whole Genome Sequencing |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001742 | Nasal obstruction | Frequent (79-30%) |
| HP:0011109 | Chronic sinusitis | Frequent (79-30%) |
| HP:0031416 | Abnormal nasal mucus secretion | Frequent (79-30%) |
| HP:0000961 | Cyanosis | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001607 | Subglottic stenosis | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002779 | Tracheomalacia | Occasional (29-5%) |
| HP:0002781 | Upper airway obstruction | Occasional (29-5%) |
| HP:0005321 | Mandibulofacial dysostosis | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0030215 | Inappropriate crying | Occasional (29-5%) |
| HP:0030842 | Choking episodes | Occasional (29-5%) |
| HP:0010442 | Polydactyly | Very rare (4-1%) |
Total: 174
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000589 | Coloboma | 33 |
| HP:0002098 | Respiratory distress | 13 |
| HP:0001742 | Nasal obstruction | 10 |
| HP:0000252 | Microcephaly | 9 |
| HP:0000347 | Micrognathia | 9 |
| HP:0000238 | Hydrocephalus | 8 |
| HP:0000316 | Hypertelorism | 7 |
| HP:0000568 | Microphthalmia | 6 |
| HP:0001629 | Ventricular septal defect | 6 |
| HP:0025011 | Pyriform aperture stenosis | 6 |
| HP:0000520 | Proptosis | 5 |
| HP:0410030 | Cleft lip | 5 |
| HP:0000135 | Hypogonadism | 4 |
| HP:0000369 | Low-set ears | 4 |
| HP:0000452 | Choanal stenosis | 4 |
| HP:0000528 | Anophthalmia | 4 |
| HP:0000956 | Acanthosis nigricans | 4 |
| HP:0010564 | Bifid epiglottis | 4 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0000821 | Hypothyroidism | 3 |
| HP:0001159 | Syndactyly | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002676 | Cloverleaf skull | 3 |
| HP:0002980 | Femoral bowing | 3 |
| HP:0012806 | Proboscis | 3 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0000365 | Hearing impairment | 2 |
| HP:0000470 | Short neck | 2 |
| HP:0000668 | Hypodontia | 2 |
| HP:0000836 | Hyperthyroidism | 2 |
| HP:0001126 | Cryptophthalmos | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0001601 | Laryngomalacia | 2 |
| HP:0001643 | Patent ductus arteriosus | 2 |
| HP:0001747 | Accessory spleen | 2 |
| HP:0001792 | Small nail | 2 |
| HP:0001903 | Anemia | 2 |
| HP:0002007 | Frontal bossing | 2 |
| HP:0002089 | Pulmonary hypoplasia | 2 |
| HP:0002514 | Cerebral calcification | 2 |
| HP:0002575 | Tracheoesophageal fistula | 2 |
| HP:0002777 | Tracheal stenosis | 2 |
| HP:0002828 | Multiple joint contractures | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0005280 | Depressed nasal bridge | 2 |
| HP:0008188 | Thyroid dysgenesis | 2 |
| HP:0011467 | Absent gallbladder | 2 |
| HP:0011611 | Interrupted aortic arch | 2 |
| HP:0011968 | Feeding difficulties | 2 |
| HP:0020110 | Bone fracture | 2 |
| HP:0031417 | Rhinorrhea | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000162 | Glossoptosis | 1 |
| HP:0000194 | Open mouth | 1 |
| HP:0000246 | Sinusitis | 1 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000358 | Posteriorly rotated ears | 1 |
| HP:0000366 | Abnormality of the nose | 1 |
| HP:0000388 | Otitis media | 1 |
| HP:0000411 | Protruding ear | 1 |
| HP:0000426 | Prominent nasal bridge | 1 |
| HP:0000431 | Wide nasal bridge | 1 |
| HP:0000458 | Anosmia | 1 |
| HP:0000480 | Retinal coloboma | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0000588 | Optic nerve coloboma | 1 |
| HP:0000598 | Abnormality of the ear | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000652 | Lower eyelid coloboma | 1 |
| HP:0000768 | Pectus carinatum | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0001063 | Acrocyanosis | 1 |
| HP:0001082 | Cholecystitis | 1 |
| HP:0001138 | Optic neuropathy | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001182 | Tapered finger | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001357 | Plagiocephaly | 1 |
| HP:0001374 | Congenital hip dislocation | 1 |
| HP:0001395 | Hepatic fibrosis | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0001602 | Laryngeal stenosis | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0001947 | Renal tubular acidosis | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002139 | Arrhinencephaly | 1 |
| HP:0002212 | Curly hair | 1 |
| HP:0002292 | Frontal balding | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002335 | Agenesis of cerebellar vermis | 1 |
| HP:0002410 | Aqueductal stenosis | 1 |
| HP:0002557 | Hypoplastic nipples | 1 |
| HP:0002561 | Absent nipple | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002643 | Neonatal respiratory distress | 1 |
| HP:0002825 | Caudal appendage | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003084 | Fractures of the long bones | 1 |
| HP:0004467 | Preauricular pit | 1 |
| HP:0004894 | Laryngotracheal stenosis | 1 |
| HP:0005789 | Generalized osteosclerosis | 1 |
| HP:0006784 | Paranasal sinus hypoplasia | 1 |
| HP:0007115 | Orbital encephalocele | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0008110 | Equinovarus deformity | 1 |
| HP:0008572 | External ear malformation | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0008807 | Acetabular dysplasia | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0009755 | Ankyloblepharon | 1 |
| HP:0009777 | Absent thumb | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0009914 | Cyclopia | 1 |
| HP:0009933 | Narrow naris | 1 |
| HP:0010296 | Ankyloglossia | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0010644 | Midnasal stenosis | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011102 | Ileal atresia | 1 |
| HP:0011109 | Chronic sinusitis | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0011571 | Parachute mitral valve | 1 |
| HP:0011682 | Perimembranous ventricular septal defect | 1 |
| HP:0012384 | Rhinitis | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0012730 | Aglossia | 1 |
| HP:0025023 | Rectal atresia | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0030010 | Hydrometrocolpos | 1 |
| HP:0030025 | Auricular pit | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030779 | Ethmocephaly | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0032252 | Granuloma | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
| HP:0040075 | Hypopituitarism | 1 |
| HP:0045025 | Narrow palpebral fissure | 1 |
| HP:0100246 | Osteoma | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |
| HP:0100658 | Cellulitis | 1 |
| HP:0100699 | Scarring | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0200020 | Corneal erosion | 1 |
| HP:0410255 | Transient neutropenia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|