| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.6%) |
7473651 |
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. Verloes A, David A, Ngo L, Bottani A. J Med Genet. 1995;32(8):605-11. |
| Microretrognathia Brachydactyly | ||
| Brain Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Follow-Up Studies Hamartoma Homo sapiens Magnetic Resonance Imaging Male Time Factors | ||
| 2 (57.8%) |
27066427 |
Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management. Arif R, Al-Khatib T, Daghistani R, Shalabi M. Indian J Otolaryngol Head Neck Surg. 2016;68(1):118-22. |
| Microretrognathia | ||
| 3 (57.4%) |
29204208 (5696670) |
Pallister-Hall Syndrome. Chandra SR, Daryappa MM, Mukheem Mudabbir MA, Pooja M, Arivazhagan A. J Pediatr Neurosci. 2017;12(3):276-279. |
| Microcephaly Short philtrum Syndactyly | ||
| GLI3 | ||
| 4 (54.9%) |
15390181 |
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. Genes Chromosomes Cancer. 2005;42(1):82-6. |
| Prominent forehead Broad thumb | ||
| ENDOU GLI3 IKZF1 RPP14 | ||
| Bone Marrow Cells Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 7 DNA-Binding Proteins Fibroblasts Homo sapiens Ikaros Transcription Factor Kruppel-Like Transcription Factors Male Nerve Tissue Proteins Precursor Cell Lymphoblastic Leukemia Lymphoma Syndactyly Zinc Finger Protein Gli3 | ||
| 5 (53.3%) |
26294165 |
[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report]. Alvarado Socarras JL, Laverde Amaya DC, Prada C, Garcia Carrillo J. Arch Argent Pediatr. 2015;113(5):e290-3. |
| Polydactyly Cleft lip | ||
| Chromosomes, Human, Pair 13 Cleft Palate Congenital Hand Deformities Fetal Macrosomia Holoprosencephaly Homo sapiens Infant, Newborn Male Polydactyly Trisomy | ||
| 5 (53.3%) |
4003449 |
Laryngeal cleft: report of eight patients and a review of the literature. Tyler DC. Am J Med Genet. 1985;21(1):61-75. |
| Postaxial polydactyly Cleft lip | ||
| Child, Preschool Cleft Palate Congenital Heart Defects Females Homo sapiens Infant, Newborn Larynx Lung Male Syndrome Tracheoesophageal Fistula Urogenital Abnormalities | ||
| 7 (50.5%) |
16007608 |
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. Am J Med Genet A. 2005;136A(4):390-4. |
| Skeletal dysplasia Ulnar bowing Fibular hypoplasia | ||
| GLI3 | ||
| c|DEL|3386_3387|TT;RS#:281864935 | ||
| Abortion, Eugenic Base Sequence Child, Preschool DNA DNA Mutational Analysis DNA-Binding Proteins Fatal Outcome Fetus Fibula Hamartoma Homo sapiens Hypothalamic Diseases Kruppel-Like Transcription Factors Limb Deformities, Congenital Mutation Nerve Tissue Proteins Syndrome Zinc Finger Protein Gli3 | ||
| 8 (49.1%) |
3146300 |
A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome). Graham JM Jr, Saunders R, Fratkin J, Spiegel P, Harris M, Klein RZ. Am J Med Genet Suppl. 1986;2:53-63. |
| Microglossia Polydactyly | ||
| GH1 MARCH10 | ||
| Females Hamartoma Homo sapiens Hypothalamic Neoplasms Infant, Newborn Male Syndrome | ||
| 9 (48.8%) |
23633388 |
A de novo GLI3 mutation in a patient with acrocallosal syndrome. Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. Am J Med Genet A. 2013;161A(6):1394-400. |
| Trigonocephaly Polydactyly | ||
| GLI3 KIF7 | ||
| c|SUB|T|2786|C p|SUB|A|934|P;RS#:28933372 p|SUB|L|929|P | ||
| Acrocallosal Syndrome Acrocephalosyndactylia Amino Acid Substitution Craniosynostosis Differential Diagnosis Females Genetic Association Studies Heterozygote Homo sapiens Infant Kruppel-Like Transcription Factors Missense Mutation Nerve Tissue Proteins Phenotype Pregnancy Zinc Finger Protein Gli3 | ||
| 10 (47.6%) |
2688416 |
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. Am J Med Genet. 1989;33(4):489-99. |
| Short nose Postaxial polydactyly | ||
| Cleft Palate Congenital Heart Defects Differential Diagnosis Facial Expression Females Hamartoma Homo sapiens Hypothalamic Neoplasms Infant, Newborn Nails, Malformed |
Total: 100
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002444 | Hypothalamic hamartoma | Obligate (100%) |
| HP:0000110 | Renal dysplasia | Frequent (79-30%) |
| HP:0000191 | Accessory oral frenulum | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000413 | Atresia of the external auditory canal | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000695 | Natal tooth | Frequent (79-30%) |
| HP:0000902 | Rib fusion | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0002023 | Anal atresia | Frequent (79-30%) |
| HP:0002164 | Nail dysplasia | Frequent (79-30%) |
| HP:0002652 | Skeletal dysplasia | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002937 | Hemivertebrae | Frequent (79-30%) |
| HP:0002986 | Radial bowing | Frequent (79-30%) |
| HP:0003048 | Radial head subluxation | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005917 | Supernumerary metacarpal bones | Frequent (79-30%) |
| HP:0006136 | Bilateral postaxial polydactyly | Frequent (79-30%) |
| HP:0008213 | Gonadotropin deficiency | Frequent (79-30%) |
| HP:0008240 | Secondary growth hormone deficiency | Frequent (79-30%) |
| HP:0008245 | Pituitary hypothyroidism | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0008751 | Laryngeal cleft | Frequent (79-30%) |
| HP:0009958 | Polydactyly affecting the 3rd finger | Frequent (79-30%) |
| HP:0009971 | Polydactyly affecting the 4th finger | Frequent (79-30%) |
| HP:0010044 | Short 4th metacarpal | Frequent (79-30%) |
| HP:0011304 | Broad thumb | Frequent (79-30%) |
| HP:0011734 | Central adrenal insufficiency | Frequent (79-30%) |
| HP:0011748 | Adrenocorticotropic hormone deficiency | Frequent (79-30%) |
| HP:0011939 | 3-4 finger cutaneous syndactyly | Frequent (79-30%) |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | Frequent (79-30%) |
| HP:0040075 | Hypopituitarism | Frequent (79-30%) |
| HP:0040086 | Abnormal prolactin level | Frequent (79-30%) |
| HP:0100260 | Mesoaxial polydactyly | Frequent (79-30%) |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000122 | Unilateral renal agenesis | Occasional (29-5%) |
| HP:0000171 | Microglossia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000273 | Facial grimacing | Occasional (29-5%) |
| HP:0000308 | Microretrognathia | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000749 | Paroxysmal bursts of laughter | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0000835 | Adrenal hypoplasia | Occasional (29-5%) |
| HP:0000871 | Panhypopituitarism | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001273 | Abnormal corpus callosum morphology | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001520 | Large for gestational age | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0001837 | Broad toe | Occasional (29-5%) |
| HP:0001845 | Overlapping toe | Occasional (29-5%) |
| HP:0002101 | Abnormal lung lobation | Occasional (29-5%) |
| HP:0005990 | Thyroid hypoplasia | Occasional (29-5%) |
| HP:0006695 | Atrioventricular canal defect | Occasional (29-5%) |
| HP:0007601 | Midline facial capillary hemangioma | Occasional (29-5%) |
| HP:0008207 | Primary adrenal insufficiency | Occasional (29-5%) |
| HP:0008734 | Decreased testicular size | Occasional (29-5%) |
| HP:0010564 | Bifid epiglottis | Occasional (29-5%) |
| HP:0010821 | Gelastic seizures | Occasional (29-5%) |
| HP:0012165 | Oligodactyly | Occasional (29-5%) |
| HP:0030021 | Auricular tag | Occasional (29-5%) |
| HP:0410030 | Cleft lip | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Very rare (4-1%) |
| HP:0000062 | Ambiguous genitalia | Very rare (4-1%) |
| HP:0000243 | Trigonocephaly | Very rare (4-1%) |
| HP:0001249 | Intellectual disability | Very rare (4-1%) |
| HP:0001562 | Oligohydramnios | Very rare (4-1%) |
| HP:0001883 | Talipes | Very rare (4-1%) |
| HP:0002093 | Respiratory insufficiency | Very rare (4-1%) |
| HP:0002139 | Arrhinencephaly | Very rare (4-1%) |
| HP:0005684 | Distal arthrogryposis | Very rare (4-1%) |
| HP:0008684 | Aplasia/hypoplasia of the uterus | Very rare (4-1%) |
| HP:0010958 | Bilateral renal agenesis | Very rare (4-1%) |
| HP:0011026 | Aplasia/Hypoplasia of the vagina | Very rare (4-1%) |
| HP:0030010 | Hydrometrocolpos | Very rare (4-1%) |
| HP:0030431 | Osteochondroma | Very rare (4-1%) |
| HP:0030799 | Scaphocephaly | Very rare (4-1%) |
Total: 28
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002444 | Hypothalamic hamartoma | 13 |
| HP:0010442 | Polydactyly | 11 |
| HP:0100259 | Postaxial polydactyly | 6 |
| HP:0010564 | Bifid epiglottis | 4 |
| HP:0040075 | Hypopituitarism | 4 |
| HP:0000054 | Micropenis | 2 |
| HP:0000824 | Growth hormone deficiency | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0002144 | Tethered cord | 1 |
| HP:0002164 | Nail dysplasia | 1 |
| HP:0002521 | Hypsarrhythmia | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0003031 | Ulnar bowing | 1 |
| HP:0003038 | Fibular hypoplasia | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0008751 | Laryngeal cleft | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010821 | Gelastic seizures | 1 |
| HP:0011286 | Total colonic aganglionosis | 1 |
| HP:0030010 | Hydrometrocolpos | 1 |
| HP:0030260 | Microphallus | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100841 | Microgastria | 1 |